Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

doi:10.1002/humu.10215

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Article

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

Human mutation - 1 Jun 2003

Colosimo Alessia, Guida Valentina, Rigoli Luciana, Di Bella Chiara, De Luca Alessandro, Briuglia Silvana, Stuppia Liborio, Salpietro Damiano Carmelo, Dallapiccola Bruno

Abstract excerpt

Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affected individuals may also show renal tract abnormalities as well as multiple neurological and psychiatric symptoms. The causative gene for WS (WFS1) encoding wolframin...

Topics

Adolescent
Adult
Age of Onset
Alleles
Child
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Exons
Female
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Italy

Male

Membrane Proteins

Molecular Sequence Data

Mutation

Nucleic Acid Denaturation

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 12754709
DOI: 10.1002/humu.10215

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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