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Article

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.

Clinical endocrinology - 1 Nov 2011

Zmyslowska A, Borowiec M, Antosik K, Szalecki M, Stefanski A, Iwaniszewska B, Jedrzejczyk M, Pietrzak I, Mlynarski W

Abstract excerpt

OBJECTIVE: Wolfram syndrome is a rare form of diabetes mellitus associated with optic atrophy and disorders of different organs (e.g. diabetes insipidus, hearing loss, ataxia, anaemia and many others). This syndrome is caused by recessive mutations in the wolframin gene (WFS1) localized on chromosome 4p16·1. The aim of this study was to identify the causative mutations in WFS1 in a group of Polish patients with...

Topics

Adolescent
Female
Genetic Association Studies
Humans
Male
Membrane Proteins
Multiplex Polymerase Chain Reaction
Mutation
Poland
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

White People

Wolfram Syndrome

Young Adult

Source

Identifiers

PMID: 21564155
DOI: 10.1111/j.1365-2265.2011.04102.x

Genes

WFS1

Provenance

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