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Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Experimental eye research - 1 Aug 2004

Seyedahmadi Babak Jian, Rivolta Carlo, Keene Julia A, Berson Eliot L, Dryja Thaddeus P

Abstract excerpt

A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different sequence variations, including 18 likely pathogenic mutations (13 frameshift, three nonsense, and two missense), 12 changes of uncertain pathogenicity (11 missense changes and one...

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Identifiers

PMID: 15325563
DOI: 10.1016/j.exer.2004.03.005

Genes

RPGR

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Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.PMID 15325563Read ↗

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