Article
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
Human molecular genetics - 1 Jan 2005
Zheng Qing Yin, Yan Denise, Ouyang Xiao Mei, Du Li Lin, Yu Heping, Chang Bo, Johnson Kenneth R, Liu Xue Zhong
Abstract excerpt
Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans. Here, we provide evidence that mutations at these two cadherin loci can interact to cause hearing loss in digenic heterozygotes of both species. Using a classical genetic approach, we generated mice that were heterozygous for both Cdh23 and Pcdh15 mutations on a uniform C57BL/6J background. Significant levels of...
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