Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Item
http://www.wikidata.org/entity/Q44272370
Wolfram syndrome: new mutations, different phenotypePhenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.No association between wolframin gene H611R polymorphism and mood disorders: evidence from 2,570 subjects.Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Be aware of Wolfram syndrome when examining ataxic patients.Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome
P2860

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.

Item
http://www.wikidata.org/entity/Q44272370
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Identification of novel mutati ...... atients with Wolfram syndrome.
@en
Identification of novel mutati ...... atients with Wolfram syndrome.
@nl
type
label
Identification of novel mutati ...... atients with Wolfram syndrome.
@en
Identification of novel mutati ...... atients with Wolfram syndrome.
@nl
prefLabel
Identification of novel mutati ...... atients with Wolfram syndrome.
@en
Identification of novel mutati ...... atients with Wolfram syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Identification of novel mutati ...... patients with Wolfram syndrome
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698