Defective myosin VIIA gene responsible for Usher syndrome type 1B.

doi:10.1038/374060a0

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Article

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Nature - 2 Mar 1995

Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston M D

Abstract excerpt

Usher syndrome represents the association of a hearing impairment with retinitis pigmentosa and is the most frequent cause of deaf-blindness in humans. It is inherited as an autosomal recessive trait which is clinically and genetically heterogeneous. Some patients show abnormal organization of mi...

Topics

Adult
Amino Acid Sequence
Animals
Base Sequence
Child
Chromosomes, Human, Pair 11
DNA
DNA Mutational Analysis
Deafness
Female
Humans
Male
Mice
Molecular Sequence Data
Mutation
Myosins
Retinitis Pigmentosa
Sequence Homology, Amino Acid

Source

Open in PubMed

Identifiers

PMID: 7870171
DOI: 10.1038/374060a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7870171-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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