Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
about
Wolfram syndrome: new mutations, different phenotypeForty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Molecular characterization of WFS1 in patients with Wolfram syndromeTargeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.Molecular diagnostics for hereditary hearing loss in children.Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.WFS1 mutations in hearing-impaired children.Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.Clinical Picture, Evolution and Peculiar Molecular Findings in a Very Large Pedigree with Wolfram Syndrome
P2860
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P2860
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
description
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2001
@ast
im Januar 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 2001)
@en
vedecký článok (publikovaný 2001-01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd in 2001-01)
@nl
наукова стаття, опублікована в січні 2001
@uk
مقالة علمية (نشرت عام 2001)
@ar
name
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@ast
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@en
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@nl
type
label
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@ast
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@en
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@nl
prefLabel
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@ast
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@en
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@nl
P2093
P356
P1476
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees
@en
P2093
B Rodríguez
M Gómez-Zaera
P356
10.1006/MGME.2000.3107
P407
P577
2001-01-01T00:00:00Z