Article
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Human mutation - 1 Jan 2012
Vaché Christel, Besnard Thomas, le Berre Pauline, García-García Gema, Baux David, Larrieu Lise, Abadie Caroline, Blanchet Catherine, Bolz Hanno Jörn, Millan Jose, Hamel Christian, Malcolm Sue, Claustres Mireille, Roux Anne-Françoise
Abstract excerpt
USH2A sequencing in three affected members of a large family, referred for the recessive USH2 syndrome, identified a single pathogenic alteration in one of them and a different mutation in the two affected nieces. As the patients carried a common USH2A haplotype, they likely shared a mutation not found by standard sequencing techniques. Analysis of RNA from nasal cells in one affected individual identified an...
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