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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ. Bork JM, et al. Among authors: wayne s. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21. Am J Hum Genet. 2001. PMID: 11090341 Free PMC article.
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Alagramam KN, et al. Among authors: wayne s. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. Hum Mol Genet. 2001. PMID: 11487575
115 results