Article
Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.
Genomics - 15 Sept 1996
Chen Z Y, Hasson T, Kelley P M, Schwender B J, Schwartz M F, Ramakrishnan M, Kimberling W J, Mooseker M S, Corey D P
Abstract excerpt
Myosin-VIIa is an unconventional myosin with relatively restricted expression. Cloned first from an intestinal epithelium cell line, it occurs most notably in the testis, in the receptor cells of the inner ear, and in the pigment epithelium of the retina. Defects in myosin-VIIa cause the shaker-1 phenotype in mice and Usher syndrome 1B in human, which are characterized by deafness, lack of vestibular function,...
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