Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa
β Scribed by Eudy, J. D.
- Book ID
- 121159608
- Publisher
- American Association for the Advancement of Science
- Year
- 1998
- Tongue
- English
- Weight
- 719 KB
- Volume
- 280
- Category
- Article
- ISSN
- 0036-8075
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π SIMILAR VOLUMES
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
Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu