Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with U...

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Main Authors: Astuto, Lisa M., Weston, Michael D., Carney, Carol A., Hoover, Denise M., Cremers, Cor W. R. J., Wagenaar, Mariette, Moller, Claes, Smith, Richard J. H., Pieke-Dahl, Sandra, Greenberg, Jacquie, Ramesar, Raj, Jacobson, Samuel G., Ayuso, Carmen, Heckenlively, John R., Tamayo, Marta, Gorin, Michael B., Reardon, Willie, Kimberling, William J.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2000
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287932/
https://ncbi.nlm.nih.gov/pubmed/11060213
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