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Article

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.

Clinical genetics - 1 Apr 2003

Blaydon D C, Mueller R F, Hutchin T P, Leroy B P, Bhattacharya S S, Bird A C, Malcolm S, Bitner-Glindzicz M

Abstract excerpt

Denaturing high-performance liquid chromatography (DHPLC) was used to screen 14 UK patients with Usher syndrome type 1, in order to assess the contribution of mutations in USH1C to type 1 Usher. In addition, 16 Caucasian sib pairs and two small consanguineous families with non-syndromic deafness, who were concordant for haplotypes around DFNB18, were also screened for mutations in the USH1C gene. Two Usher type 1...

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Identifiers

PMID: 12702164
DOI: 10.1034/j.1399-0004.2003.00058.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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