Mutational screening of the <it>USH2A </it>gene in Spanish USH patients reveals 23 novel pathogenic mutations

Mutational screening of the <it>USH2A </it>gene in Spanish USH patients reveals 23 novel pathogenic mutations

<p>Abstract</p> <p>Background</p> <p>Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the <it>USH2A </it>gen...

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Bibliographic Details
Main Authors: Diaz-Llopis Manuel, Navarro Rafael, Bernal Sara, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Leon Ana M, Rodrigo Regina, Jaijo Teresa, Aparisi Maria J, Garcia-Garcia Gema, Baiget Montserrat, Ayuso Carmen, Millan Jose M, Aller Elena
Format: Article
Language:English
Published: BMC 2011-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Usher Syndrome
<it>USH2A</it>
Mutations
Sequence Variants
Online Access:http://www.ojrd.com/content/6/1/65

Internet

http://www.ojrd.com/content/6/1/65

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