Article
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
American journal of human genetics - 1 Apr 2004
van Wijk Erwin, Pennings Ronald J E, te Brinke Heleen, Claassen Annemarie, Yntema Helger G, Hoefsloot Lies H, Cremers Frans P M, Cremers Cor W R J, Kremer Hannie
Abstract excerpt
The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa. Since mutation analysis by DNA sequencing of exons 1-21 revealed only ~63% of the expected USH2A mutations, we searched for so-far-uncharacterized exons of the gene. We identified 51 novel exons at the 3' end of the gene, and we...
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