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USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

Human mutation - 1 Aug 2004

Pennings Ronald J E, Te Brinke Heleen, Weston Michael D, Claassen Annemarie, Orten Dana J, Weekamp Henriëtte, Van Aarem Annelies, Huygen Patrick L M, Deutman August F, Hoefsloot Lies H, Cremers Frans P M, Cremers Cor W R J, Kimberling William J, Kremer Hannie

Abstract excerpt

Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis of USH2A was performed in 70 Dutch USH2 families. Ten mutations in USH2A were detected, of which three are novel,...

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PMID: 15241801
DOI: 10.1002/humu.9259

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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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