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The Genomic Structure of the Gene Defective in Usher Syndrome Type Ib (MYO7A)

✍ Scribed by Philip M. Kelley; Mike D. Weston; Zheng-Yi Chen; Dana J. Orten; Tama Hasson; Larry D. Overbeck; Jeff Pinnt; Catherine B. Talmadge; Paul Ing; Mark S. Mooseker; David Corey; Janos Sumegi; William J. Kimberling

Book ID
115613675
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
431 KB
Volume
40
Category
Article
ISSN
0888-7543

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Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B