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Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Liang Y, Wang A, Probst FJ, Arhya IN, Barber TD, Chen KS, Deshmukh D, Dolan DF, Hinnant JT, Carter LE, Jain PK, Lalwani AK, Li XC, Lupski JR, Moeljopawiro S, Morell R, Negrini C, Wilcox ER, Winata S, Camper SA, Friedman TB. Liang Y, et al. Among authors: camper sa. Am J Hum Genet. 1998 Apr;62(4):904-15. doi: 10.1086/301786. Am J Hum Genet. 1998. PMID: 9529344 Free PMC article.
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
Ben-Yosef T, Belyantseva IA, Saunders TL, Hughes ED, Kawamoto K, Van Itallie CM, Beyer LA, Halsey K, Gardner DJ, Wilcox ER, Rasmussen J, Anderson JM, Dolan DF, Forge A, Raphael Y, Camper SA, Friedman TB. Ben-Yosef T, et al. Among authors: camper sa. Hum Mol Genet. 2003 Aug 15;12(16):2049-61. doi: 10.1093/hmg/ddg210. Hum Mol Genet. 2003. PMID: 12913076
Skeletal dysplasia and male infertility locus on mouse chromosome 9.
Cha KB, Karolyi IJ, Hunt A, Wenglikowski AM, Wilkinson JE, Dolan DF, Dootz G, Finnegan AA, Seasholtz AF, Hankenson KD, Siracusa LD, Camper SA. Cha KB, et al. Among authors: camper sa. Genomics. 2004 Jun;83(6):951-60. doi: 10.1016/j.ygeno.2003.12.020. Genomics. 2004. PMID: 15177549
220 results