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Article

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

Human molecular genetics - 1 Aug 2001

Alagramam K N, Yuan H, Kuehn M H, Murcia C L, Wayne S, Srisailpathy C R, Lowry R B, Knaus R, Van Laer L, Bernier F P, Schwartz S, Lee C, Morton C C, Mullins R F, Ramesh A, Van Camp G, Hageman G S, Woychik R P, Smith R J, Hagemen G S

Abstract excerpt

We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. We de...

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Source

Identifiers

PMID: 11487575
DOI: 10.1093/hmg/10.16.1709

Genes

PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11487575-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.PMID 11487575Read ↗

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.Semantic proximity Read ↗

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