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DFNB21.
Denoyelle F, Mustapha M, Petit C. Denoyelle F, et al. Among authors: mustapha m. Adv Otorhinolaryngol. 2002;61:153-5. doi: 10.1159/000066827. Adv Otorhinolaryngol. 2002. PMID: 12408078 No abstract available.
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. Zwaenepoel I, et al. Among authors: mustapha m. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. doi: 10.1073/pnas.082515999. Epub 2002 Apr 23. Proc Natl Acad Sci U S A. 2002. PMID: 11972037 Free PMC article.
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al. Denoyelle F, et al. Among authors: mustapha m. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442
261 results