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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2000
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1287932/
https://ncbi.nlm.nih.gov/pubmed/11060213
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak