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Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Human mutation - 1 Oct 2014

Baux David, Blanchet Catherine, Hamel Christian, Meunier Isabelle, Larrieu Lise, Faugère Valérie, Vaché Christel, Castorina Pierangela, Puech Bernard, Bonneau Dominique, Malcolm Sue, Claustres Mireille, Roux Anne-Françoise

Abstract excerpt

Alterations of USH2A, encoding usherin, are responsible for more than 70% of cases of Usher syndrome type II (USH2), a recessive disorder that combines moderate to severe hearing loss and retinal degeneration. The longest USH2A transcript encodes usherin isoform b, a 5,202-amino-acid transmembrane protein with an exceptionally large extracellular domain consisting notably of a Laminin N-terminal domain and...

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PMID: 24944099
DOI: 10.1002/humu.22608

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EGF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.PMID 24944099Read ↗

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