Molecular characterization of WFS1 in patients with Wolfram syndrome
about
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric diseaseThe diagnosis of children with central diabetes insipidus.Wolframin mutations and hospitalization for psychiatric illness.Phenotype 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.Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations.Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndromeClinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)Wolfram syndrome and WFS1 gene.WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Hearing impairment in genotyped Wolfram syndrome patients.Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
P2860
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P2860
Molecular characterization of WFS1 in patients with Wolfram syndrome
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Molecular characterization of WFS1 in patients with Wolfram syndrome
@ast
Molecular characterization of WFS1 in patients with Wolfram syndrome
@en
type
label
Molecular characterization of WFS1 in patients with Wolfram syndrome
@ast
Molecular characterization of WFS1 in patients with Wolfram syndrome
@en
prefLabel
Molecular characterization of WFS1 in patients with Wolfram syndrome
@ast
Molecular characterization of WFS1 in patients with Wolfram syndrome
@en
P2093
P2860
P1476
Molecular characterization of WFS1 in patients with Wolfram syndrome
@en
P2093
Alexander B Arntzenius
Bernard F E Veldhuijzen
Cor W R J Cremers
George M C Janssen
Inge Walraven
J Antonie Maassen
Johannes M W van ven Ouweland
Lambert D Dikkeschei
Ronald J E Pennings
P2860
P356
10.1016/S1525-1578(10)60457-6
P577
2003-05-01T00:00:00Z