Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene-Reference-Cited by-同舟云学术

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Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene

Published:2004 Issue:1 Volume:25 Page:99-100
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Giuliano Fabienne,Bannwarth Sylvie,Monnot Sophie,Cano Aline,Chabrol Brigitte,Vialettes Bernard,Delobel Bruno,Paquis-Flucklinger Veronique,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 51 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An adolescent with Wolfram syndrome and central sleep apnea;Journal of Clinical Sleep Medicine;2024-07

2. Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature;Children;2024-06-07

3. AWFS1variant disrupting acceptor splice site uncovers the impact of alternative splicing on ER-stress independent β cell apoptosis in a patient with Wolfram syndrome;2023-12-30

4. Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management;Frontiers in Genetics;2023-12-14

5. Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum;Survey of Ophthalmology;2023-07

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