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Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

作者信息

Liu X Z, Hope C, Walsh J, Newton V, Ke X M, Liang C Y, Xu L R, Zhou J M, Trump D, Steel K P, Bundey S, Brown S D

出版信息

Am J Hum Genet. 1998 Sep;63(3):909-12. doi: 10.1086/302026.

DOI:10.1086/302026
PMID:9718356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1377414/
Abstract
摘要

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Identification of three novel mutations in the MYO7A gene.
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Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.1型Usher综合征患者中肌球蛋白VIIA基因与视觉功能的评估
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Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.非综合征性隐性耳聋DFNB18和IC型Usher综合征是USHIC的等位基因突变。
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