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Article

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

Molecular and cellular probes - 1 Dec 1998

Cuevas J M, Espinós C, Millán J M, Sánchez F, Trujillo M J, García-Sandoval B, Ayuso C, Nájera C, Beneyto M

Abstract excerpt

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VIIA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be responsible for the disease since it leads to a truncated protein that presumably has no function.

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Source

Identifiers

PMID: 9843659
DOI: 10.1006/mcpr.1998.0202

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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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