Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

about

Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries Characterization of mutations in (prion) gene and their possible roles in neurodegenerative diseases

P2860

Q28078428-718B6E56-DB4D-4A82-8F17-B03692AB1F3E Q58781975-91CDD858-6E31-4A61-B2E5-FAE598D100EF

P2860

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

Item

http://www.wikidata.org/entity/Q36072627

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@ast

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@en

type

Item

label

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@ast

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@en

prefLabel

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@ast

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@en

P1476

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

@en

P2093

Eva Bagyinszky

http://www.w3.org/2001/XMLSchema#string

Gaik-Siew Ch'ng

http://www.w3.org/2001/XMLSchema#string

SangYun Kim

http://www.w3.org/2001/XMLSchema#string

Seong Soo A An

http://www.w3.org/2001/XMLSchema#string

Sun Oh Bae

http://www.w3.org/2001/XMLSchema#string

P2860

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

A method and server for predicting damaging missense mutations

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

SIFT: Predicting amino acid changes that affect protein function

Template-based protein structure modeling using the RaptorX web server.

Clinical genetics of Alzheimer's disease

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

P304

2315-2322

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.2147/NDT.S86334

http://www.w3.org/2001/XMLSchema#string

P407

English

P478

http://www.w3.org/2001/XMLSchema#string

P577

2015-09-08T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

26396515

http://www.w3.org/2001/XMLSchema#string

P921

An Mhalaeisia

P932

4574885

http://www.w3.org/2001/XMLSchema#string

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

about

P2860

P2860

Identification of two novel mutations, PSEN1 E280K and PRNP G127S, in a Malaysian family.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P577

P698

P921

P932