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[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].

Zhonghua yi xue za zhi - 14 Sept 2005

Fang Qi-chen, Jia Wei-ping, Zhang Rong, Li Qing, Hu Cheng, Shao Xin-yu, Chai Hua-qi, Lu Hui-juan, Xiang Kun-san

Abstract excerpt

OBJECTIVE: Wolfram syndrome is an autosomal recessive disorder characterized by early-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. The aim of this study was to scan the WFS1 gene mutations in a Chinese Wolfram syndrome pedigree. METHODS: Eight exons and flanking introns of WFS1 gene were screened using PCR-DNA direct sequencing. Effects of the mutation on the structure and function of...

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Source

Identifiers

PMID: 16321270

Genes

WFS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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[A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome].PMID 16321270Read ↗

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