Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

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作者信息

Fuentes J J, Volpini V, Fernández-Toral F, Coto E, Estivill X

机构信息

Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Catalonia, Spain.

出版信息

Hum Mol Genet. 1993 Nov;2(11):1953-5. doi: 10.1093/hmg/2.11.1953.

DOI:10.1093/hmg/2.11.1953

PMID:8281159

Abstract

摘要

相似文献

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families.

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