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Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration. Roux AF, et al. J Med Genet. 2006 Sep;43(9):763-8. doi: 10.1136/jmg.2006.041954. Epub 2006 May 5. J Med Genet. 2006. PMID: 16679490 Free PMC article.
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, Melchionda S, Lelli A, Domi T, Fedrizzi L, Lim D, Shull GE, Gasparini P, Brini M, Mammano F, Carafoli E. Ficarella R, et al. Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1516-21. doi: 10.1073/pnas.0609775104. Epub 2007 Jan 18. Proc Natl Acad Sci U S A. 2007. PMID: 17234811 Free PMC article.