Article
Identification of three novel mutations in the MYO7A gene.
Human mutation - 19 Aug 1999
Cuevas J M, Espinós C, Millán J M, Sánchez F, Trujillo M J, Ayuso C, Beneyto M, Nájera C
Abstract excerpt
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype.
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