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Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes

Inherited hearing loss in mice has contributed substantially to our understanding of inner-ear function. We identified a new allele at the Myo7a locus, Myo7a(sh1–8J); genomic characterization indicated that Myo7a(sh1–8J) arose from complex deletion encompassing exons 38–40 and 42–46. Homozygous muta...

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Hlavní autoři: Zheng, Qing Yin, Scarborough, John D., Zheng, Ye, Yu, Heping, Choi, Dongseok, Gillespie, Peter G.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349429/
https://ncbi.nlm.nih.gov/pubmed/22381527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds084
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