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Article

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

European journal of human genetics : EJHG - 1 Jan 2005

Dalski Andreas, Atici Jassemien, Kreuz Friedmar R, Hellenbroich Yorck, Schwinger Eberhard, Zühlke Christine

Abstract excerpt

The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a group of neurodegenerative disorders with overlapping as well as highly variable phenotypes. Genetically, at least 25 different loci have been identified. Seven SCAs are caused by CAG trinucleotide repeat expansions, for 13 the chromosomal localization is known solely. Recently, a missense mutation in the fibroblast growth factor 14 gene...

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Source

Identifiers

PMID: 15470364
DOI: 10.1038/sj.ejhg.5201286

Genes

FGF14

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.PMID 15470364Read ↗

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