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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Among authors: rogers mj. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Genetic mapping of the whirler mutation.
Rogers MJ, Fleming J, Kiernan BW, Mburu P, Varela A, Brown SD, Steel KP. Rogers MJ, et al. Mamm Genome. 1999 May;10(5):513-9. doi: 10.1007/s003359901032. Mamm Genome. 1999. PMID: 10337627
321 results