Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current stu...

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Dettagli Bibliografici
Autori principali: Weston, M. D., Kelley, P. M., Overbeck, L. D., Wagenaar, M., Orten, D. J., Hasson, T., Chen, Z. Y., Corey, D., Mooseker, M., Sumegi, J., Cremers, C., Moller, C., Jacobson, S. G., Gorin, M. B., Kimberling, W. J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1996
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914835/
https://ncbi.nlm.nih.gov/pubmed/8900236
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