Currently Clinical Views on Genetics of Wilson's Disease

Item

http://www.wikidata.org/entity/Q36523123

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Currently Clinical Views on Genetics of Wilson's Disease

@ast

Currently Clinical Views on Genetics of Wilson's Disease

@en

type

Item

label

Currently Clinical Views on Genetics of Wilson's Disease

@ast

Currently Clinical Views on Genetics of Wilson's Disease

@en

prefLabel

Currently Clinical Views on Genetics of Wilson's Disease

@ast

Currently Clinical Views on Genetics of Wilson's Disease

@en

P1476

Currently Clinical Views on Genetics of Wilson's Disease

@en

P2093

Chen Chen

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

Jia-Jia Xiao

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

Rong Wu

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

Sarah Jane Duff Canning

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

Xiao-Ping Wang

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

P275

Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

P2860

Crystal structure of a copper-transporting PIB-type ATPase

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity

Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation.

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

Diverse functional properties of Wilson disease ATP7B variants.

EASL Clinical Practice Guidelines: Wilson's disease.

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

P304

1826-1830

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

P31

scholarly article

P356

10.4103/0366-6999.159361

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

P407

English

P433

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

P478

128

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

P50

Bo Shen

P5008

ScienceSource

P577

2015-07-01T00:00:00Z

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

P5875

281360970

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

P698

26112727

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

P921

Wilson disease

P932

4733722

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