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Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Kurima K, et al. Among authors: keats bj. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
Genomics and hearing impairment.
Keats BJ, Berlin CI. Keats BJ, et al. Genome Res. 1999 Jan;9(1):7-16. Genome Res. 1999. PMID: 9927480 Free article. Review.
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Möller CG, Pelias MZ, Tranebjaerg L. Smith RJ, et al. Among authors: keats bj. Am J Med Genet. 1994 Mar 1;50(1):32-8. doi: 10.1002/ajmg.1320500107. Am J Med Genet. 1994. PMID: 8160750
The mouse deafness locus (dn) is associated with an inversion on chromosome 19.
Viñas AM, Drury SS, DeAngelis MM, Den Z, Huang JM, Berlin CI, Hunt JD, Batzer MA, Deininger PL, Keats BJ. Viñas AM, et al. Among authors: keats bj. Biochim Biophys Acta. 1998 Sep 30;1407(3):257-62. doi: 10.1016/s0925-4439(98)00050-7. Biochim Biophys Acta. 1998. PMID: 9748617 Free article.
111 results