The Value of NOTCH2NLC Gene Detection and Skin Biopsy

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

 

The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value between abnormal GGC repeat expansions of NOTCH2NLC and skin biopsy has not been conducted yet.
In this study, skin biopsy was performed in 10 suspected adult NIID patients with clinical and imaging manifestations, and GGC repeat size in NOTCH2NLC was also screened by repeat primed-PCR and GC-rich PCR. We found that five cases had ubiquitin-immunolabelling intranuclear inclusion bodies by skin biopsy, and all of them were identified with abnormal GGC repeat expansions in NOTCH2NLC, among whom four patients showed typical linear hyperintensity at corticomedullary junction on DWI.
Five (5/10) NIID patients were diagnosed by combination of NOTCH2NLC gene detection, skin biopsy or combination of NOTCH2NLC, and typical MRI findings. The diagnostic performance of NOTCH2NLC gene detection was highly consistent with that of skin biopsy (Kappa = 1). The unexplained headache was firstly reported as a new early phenotype of NIID. These findings indicate that NOTCH2NLC gene detection is needed to be a supplement in the diagnose flow of NIID and also may be used as an alternative method to skin biopsy especially in Asian population.
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Description: Recombinant Human Epithelial cell adhesion molecule(EPCAM),partial expressed in E.coli

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Description: Recombinant Chicken Epithelial Cell Adhesion Molecule expressed in: E.coli

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Description: Recombinant Human Epithelial Cell Adhesion Molecule expressed in: E.coli

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Description: Recombinant Pig Epithelial Cell Adhesion Molecule expressed in: E.coli

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EpCAM / CD326 (Epithelial Marker) (EGP40/2041R) Antibody

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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 472.8
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EUR 472.8
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EUR 279.6
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF594 conjugate, Concentration: 0.1mg/mL

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EUR 654
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF594 conjugate, Concentration: 0.1mg/mL

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EUR 279.6
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF680R conjugate, Concentration: 0.1mg/mL

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EUR 654
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EUR 316.8
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EUR 486
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EUR 615.6
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
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EUR 279.6
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EUR 654
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF680 conjugate, Concentration: 0.1mg/mL

EpCAM / CD326 (Epithelial Marker) (EGP40/2041R) Antibody

BNC052041-100 100uL
EUR 279.6
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF405M conjugate, Concentration: 0.1mg/mL

EpCAM / CD326 (Epithelial Marker) (EGP40/2041R) Antibody

BNC052041-500 500uL
EUR 654
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF405M conjugate, Concentration: 0.1mg/mL

EpCAM / CD326 (Epithelial Marker) (EGP40/2041R) Antibody

BNC702041-100 100uL
EUR 279.6
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF770 conjugate, Concentration: 0.1mg/mL

EpCAM / CD326 (Epithelial Marker) (EGP40/2041R) Antibody

BNC702041-500 500uL
EUR 654
Description: Primary antibody against EpCAM / CD326 (Epithelial Marker) (EGP40/2041R), CF770 conjugate, Concentration: 0.1mg/mL

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

20-abx151423
  • EUR 8534.40
  • EUR 4550.40
  • EUR 1054.80
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Human Epithelial Cell Adhesion Molecule (EPCAM) CLIA Kit

abx196638-96tests 96 tests
EUR 990

Mouse Epithelial Cell Adhesion Molecule (EPCAM) CLIA Kit

abx196938-96tests 96 tests
EUR 990

Chicken Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx356953-96tests 96 tests
EUR 990

Monkey Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx359768-96tests 96 tests
EUR 990

Rabbit Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx363660-96tests 96 tests
EUR 990

Pig Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx361484-96tests 96 tests
EUR 990

Mouse Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx254058-96tests 96 tests
EUR 848.4

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx350740-96tests 96 tests
EUR 801.6

Cow Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx516210-96tests 96 tests
EUR 1093.2

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx516212-96tests 96 tests
EUR 801.6

Mouse Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx516213-96tests 96 tests
EUR 848.4

Rat Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

abx516215-96tests 96 tests
EUR 801.6

Human Epithelial Cell Adhesion Molecule (EPCAM) CLIA Kit

20-abx492586
  • EUR 9567.60
  • EUR 5095.20
  • EUR 1177.20
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Human Epithelial cell adhesion molecule(EPCAM) ELISA kit

CSB-EL007717HU-24T 1 plate of 24 wells
EUR 198
Description: Quantitativesandwich ELISA kit for measuring Human Epithelial cell adhesion molecule (EPCAM) in samples from serum, plasma, cell culture supernates, tissue homogenates. A new trial version of the kit, which allows you to test the kit in your application at a reasonable price.

Human Epithelial cell adhesion molecule(EPCAM) ELISA kit

1-CSB-EL007717HU
  • EUR 964.80
  • EUR 6118.80
  • EUR 3244.80
  • 1 plate of 96 wells
  • 10 plates of 96 wells each
  • 5 plates of 96 wells each
Description: Quantitativesandwich ELISA kit for measuring Human Epithelial cell adhesion molecule(EPCAM) in samples from serum, plasma, cell culture supernates, tissue homogenates. Now available in a cost efficient pack of 5 plates of 96 wells each, conveniently packed along with the other reagents in 5 separate kits.

Human Epithelial Cell Adhesion Molecule, EPCAM ELISA Kit

DEIA244 5 plates
EUR 1612.8
Description: The human EPCAM ELISA kit is for the quantitative determination of human EPCAM.

Epithelial Cell Adhesion Molecule (EPCAM) Polyclonal Antibody (Chicken)

4-PAB283Ga01
  • EUR 301.20
  • EUR 3091.20
  • EUR 768.00
  • EUR 379.20
  • EUR 258.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Chicken Epithelial Cell Adhesion Molecule (EPCAM)

Epithelial Cell Adhesion Molecule (EPCAM) Polyclonal Antibody (Pig)

4-PAB283Po01
  • EUR 320.40
  • EUR 3391.20
  • EUR 836.40
  • EUR 405.60
  • EUR 266.40
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Pig Epithelial Cell Adhesion Molecule (EPCAM)

Mouse EPCAM(Epithelial Cell Adhesion Molecule) ELISA Kit

EM1005 96T
EUR 628.92
Description: Method of detection: Double Antibody, Sandwich ELISA;Reacts with: Mus ;Sensitivity: 0.047 ng/ml

Epithelial Cell Adhesion Molecule (EPCAM) Monoclonal Antibody (Human)

4-MAB283Hu21
  • EUR 296.40
  • EUR 3019.20
  • EUR 751.20
  • EUR 372.00
  • EUR 256.80
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Mouse monoclonal antibody against Human Epithelial Cell Adhesion Molecule (EPCAM)

Human EPCAM/ Epithelial cell adhesion molecule ELISA Kit

E0800Hu 1 Kit
EUR 685.2

Chicken Epithelial cell adhesion molecule, EPCAM ELISA KIT

ELI-04242c 96 Tests
EUR 1113.6

Human Epithelial cell adhesion molecule, EPCAM ELISA KIT

ELI-04243h 96 Tests
EUR 988.8

Bovine Epithelial cell adhesion molecule, EPCAM ELISA KIT

ELI-04246b 96 Tests
EUR 1113.6

Mouse Epithelial cell adhesion molecule, Epcam ELISA KIT

ELI-04247m 96 Tests
EUR 1038

EPCAM Epithelial Cell Adhesion Molecule Human Recombinant Protein

PROTP16422 Regular: 20ug
EUR 380.4
Description: EPCAM Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 267 amino acids (24-265 a.a.) and having a molecular mass of 30.1kDa.;EPCAM is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

SEB283Hu-10x96wellstestplate 10x96-wells test plate
EUR 5402.92
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Epithelial Cell Adhesion Molecule (EPCAM) in serum, plasma, tissue homogenates, cell lysates and other biological fluids.

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

SEB283Hu-1x48wellstestplate 1x48-wells test plate
EUR 550.13
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Epithelial Cell Adhesion Molecule (EPCAM) in serum, plasma, tissue homogenates, cell lysates and other biological fluids.

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

SEB283Hu-1x96wellstestplate 1x96-wells test plate
EUR 734.46
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Epithelial Cell Adhesion Molecule (EPCAM) in serum, plasma, tissue homogenates, cell lysates and other biological fluids.

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

SEB283Hu-5x96wellstestplate 5x96-wells test plate
EUR 2945.08
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Epithelial Cell Adhesion Molecule (EPCAM) in serum, plasma, tissue homogenates, cell lysates and other biological fluids.

Human Epithelial Cell Adhesion Molecule (EPCAM) ELISA Kit

4-SEB283Hu
  • EUR 5463.60
  • EUR 2886.00
  • EUR 735.60
  • 10 plates of 96 wells
  • 5 plates of 96 wells
  • 1 plate of 96 wells
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Epithelial Cell Adhesion Molecule (EPCAM) in samples from Serum, plasma, tissue homogenates, cell lysates and other biological fluids. with no significant corss-reactivity with analogues from other species.

Prostate Specific Antigen Std Grade Antigen

VAng-Cr3891-1mg 1 mg
EUR 604.8
Description: Prostate Specific Antigen Std Grade Antigen, Host/Source: Human Seminal Fluid. The purity is detected by salt precipitation.

Epithelial Membrane Antigen (MUC1) Antibody

20-abx133246
  • EUR 360.00
  • EUR 526.80
  • EUR 226.80
  • 100 ul
  • 200 ul
  • 30 ul

Epithelial Membrane Antigen (MUC1) Antibody

20-abx121644
  • EUR 360.00
  • EUR 526.80
  • EUR 226.80
  • 100 ul
  • 200 ul
  • 30 ul

Epithelial Membrane Antigen (MUC1) Antibody

20-abx123255
  • EUR 493.20
  • EUR 710.40
  • 100 ul
  • 200 ul

Epithelial Membrane Antigen (MUC1) Antibody

abx020564-1mg 1 mg
EUR 1011.6

Epithelial Membrane Antigen (MUC1) Antibody

abx020565-1mg 1 mg
EUR 961.2

Epithelial Membrane Antigen (MUC1) Antibody

abx020566-1mg 1 mg
EUR 1011.6

Epithelial Membrane Antigen (MUC1) Antibody

abx020567-1mg 1 mg
EUR 1011.6

Epithelial Membrane Antigen (MUC1) Antibody

abx020569-1mg 1 mg
EUR 961.2

Epithelial Membrane Antigen (MUC1) Antibody

abx020571-1mg 1 mg
EUR 961.2

Epithelial Membrane Antigen (EMA) Antibody

abx022470-02mg 0.2 mg
EUR 1128

Epithelial Membrane Antigen (MUC1) Antibody

abx023797-1mg 1 mg
EUR 1011.6

Epithelial Membrane Antigen (MUC1) Antibody

abx025382-400ul 400 ul
EUR 627.6

Epithelial Membrane Antigen (MUC1) Antibody

abx025382-80l 80 µl
EUR 343.2

Epithelial Membrane Antigen (MUC1) Antibody

abx235427-100ug 100 ug
EUR 661.2

Epithelial Membrane Antigen (MUC1) Antibody

abx235428-100ug 100 ug
EUR 661.2

Mouse Anti-Human Ep-CAM/Epithelial Specific Antigen monoclonal antibody, clone JID678

CABT-L2933-100uL500uL 100 uL, 500 uL
EUR 602.4

Prostate Specific Antigen Antibody

49127-100ul 100ul
EUR 399.6

Prostate Specific Antigen Antibody

49127-50ul 50ul
EUR 286.8

Prostate-specific Antigen Antibody

33477-100ul 100ul
EUR 302.4

Prostate-specific Antigen Antibody

33477-50ul 50ul
EUR 224.4

Epithelium Specific Antigen antibody

10R-E126A 50 ug
EUR 501.6
Description: Mouse monoclonal Epithelium Specific Antigen antibody

Prostate-specific antigen Antibody

abx140217-01mg 0.1 mg
EUR 393.6

Prostate-specific Antigen Antibody

20-abx013184
  • EUR 376.80
  • EUR 117.60
  • EUR 477.60
  • EUR 594.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

Prostate-specific antigen Antibody

abx020585-1mg 1 mg
EUR 577.2

Prostate-specific antigen Antibody

abx020586-1mg 1 mg
EUR 844.8

Prostate-specific antigen Antibody

abx020587-1mg 1 mg
EUR 961.2

Prostate-specific antigen Antibody

abx020588-1mg 1 mg
EUR 961.2

Prostate-specific antigen Antibody

abx020591-1mg 1 mg
EUR 661.2

Prostate-specific antigen Antibody

abx020592-1mg 1 mg
EUR 661.2

Prostate-specific antigen Antibody

abx020593-1mg 1 mg
EUR 661.2

Prostate-specific antigen Antibody

abx020594-1mg 1 mg
EUR 661.2

Prostate-specific antigen Antibody

abx020595-1mg 1 mg
EUR 661.2

Prostate-specific antigen Antibody

abx020596-1mg 1 mg
EUR 794.4

Prostate-specific antigen Antibody

abx020597-1mg 1 mg
EUR 610.8

Prostate-specific antigen Antibody

abx020598-1mg 1 mg
EUR 610.8

Prostate-specific antigen Antibody

abx020599-1mg 1 mg
EUR 610.8

Prostate-specific antigen Antibody

abx020600-1mg 1 mg
EUR 610.8

Prostate-specific antigen Antibody

abx020601-1mg 1 mg
EUR 610.8

Prostate-specific antigen Antibody

abx020604-1mg 1 mg
EUR 794.4

Prostate-specific antigen Antibody

abx022531-1mg 1 mg
EUR 777.6

Prostate-specific antigen Antibody

abx022532-1mg 1 mg
EUR 811.2

Prostate-specific antigen Antibody

abx022533-1ml 1 ml
EUR 510

digIS: towards detecting distant and putative novel insertion sequence elements in prokaryotic genomes

Background: The insertion sequence elements (IS elements) represent the smallest and the most abundant mobile elements in prokaryotic genomes. It has been shown that they play a significant role in genome organization and evolution. To better understand their function in the host genome, it is desirable to have an effective detection and annotation tool.

This need becomes even more crucial when considering rapid-growing genomic and metagenomic data. The existing tools for IS elements detection and annotation are usually based on comparing sequence similarity with a database of known IS families. Thus, they have limited ability to discover distant and putative novel IS elements.

Results: In this paper, we present digIS, a software tool based on profile hidden Markov models assembled from catalytic domains of transposases. It shows a very good performance in detecting known IS elements when tested on datasets with manually curated annotation. The main contribution of digIS is in its ability to detect distant and putative novel IS elements while maintaining a moderate level of false positives. In this category it outperforms existing tools, especially when tested on large datasets of archaeal and bacterial genomes.

Conclusion: We provide digIS, a software tool using a novel approach based on manually curated profile hidden Markov models, which is able to detect distant and putative novel IS elements. Although digIS can find known IS elements as well, we expect it to be used primarily by scientists interested in finding novel IS elements.

Gene Expression Changes in a Model Neuron Cell Line Exposed to Autoantibodies from Patients with Traumatic Brain Injury and/or Type 2 Diabetes

Traumatic brain injury and adult type 2 diabetes mellitus are each associated with the late occurrence of accelerated cognitive decline and Parkinson’s disease through unknown mechanisms. Previously, we reported increased circulating agonist autoantibodies targeting the 5-hydroxytryptamine 2A receptor in plasma from subsets of Parkinson’s disease, dementia, and diabetic patients suffering with microvascular complications.
Here, we use a model neuron, mouse neuroblastoma (N2A) cell line, to test messenger RNA expression changes following brief exposure to traumatic brain injury and/or type 2 diabetes mellitus plasma harboring agonist 5-hydroxytryptamine 2A receptor autoantibodies.
We now report involvement of the mitochondrial dysfunction pathway and Parkinson’s disease pathways in autoantibody-induced gene expression changes occurring in neuroblastoma cells. Functional gene categories upregulated significantly included cell death, cytoskeleton-microtubule function, actin polymerization or depolymerization, regulation of cell oxidative stress, mitochondrial function, immune function, protein metabolism, and vesicle function.
Gene categories significantly downregulated included microtubule function, cell adhesion, neurotransmitter release, dopamine metabolism synaptic plasticity, maintenance of neuronal differentiation, mitochondrial function, and cell signaling.
Taken together, these results suggest that agonist 5-hydroxytryptamine receptor autoantibodies (which increase in Parkinson’s disease and other forms of neurodegeneration) mediate a coordinating program of gene expression changes in a model neuron which predispose to neuro-apoptosis and are linked to human neurodegenerative diseases pathways.

Novel Alzheimer’s disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers

Alzheimer’s disease (AD) is a progressive neurodegenerative disease associated with a complex genetic etiology. Besides the apolipoprotein E ε4 (APOE ε4) allele, a few dozen other genetic loci associated with AD have been identified through genome-wide association studies (GWAS) conducted mainly in individuals of European ancestry.
Recently, several GWAS performed in other ethnic groups have shown the importance of replicating studies that identify previously established risk loci and searching for novel risk loci. APOE-stratified GWAS have yielded novel AD risk loci that might be masked by, or be dependent on, APOE alleles.
We performed whole-genome sequencing (WGS) on DNA from blood samples of 331 AD patients and 169 elderly controls of Korean ethnicity who were APOE ε4 carriers. Based on WGS data, we designed a customized AD chip (cAD chip) for further analysis on an independent set of 543 AD patients and 894 elderly controls of the same ethnicity, regardless of their APOE ε4 allele status.
Combined analysis of WGS and cAD chip data revealed that SNPs rs1890078 (P = 6.64E-07) and rs12594991 (P = 2.03E-07) in SORCS1 and CHD2 genes, respectively, are novel genetic variants among APOE ε4 carriers in the Korean population.
In addition, nine possible novel variants that were rare in individuals of European ancestry but common in East Asia were identified. This study demonstrates that APOE-stratified analysis is important for understanding the genetic background of AD in different populations.

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