Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa. This disorder maps to human chromosome 1q41. Recently, mutations in USHIIa patients were identified in a novel gene isolated from t...

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Main Authors:	Weston, M. D., Eudy, J. D., Fujita, S., Yao, S.-F., Usami, S., Cremers, C., Greenburg, J., Ramesar, R., Martini, A., Moller, C., Smith, R. J., Sumegi, J., Kimberling, William J.
Format:	Artigo
Sprog:	Inglês
Udgivet:	The American Society of Human Genetics 2000
Fag:	Articles
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC1288187/ https://ncbi.nlm.nih.gov/pubmed/10729113
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Genomic Structure and Identification of Novel Mutations in Usherin, the Gene Responsible for Usher Syndrome Type IIa

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