一个患有威尔逊病的撒丁岛家族中ATP7B基因的24碱基对缺失及丙氨酸1278突变为缬氨酸 - Suppr | 超能文献

24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

作者信息

Orrù S, Thomas G, Loizedda A, Cox D W, Contu L

机构信息

Department of Medical Genetics, Institute of Clinical Medicine, Cagliari, Italy.

出版信息

Hum Mutat. 1997;10(1):84-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W.

DOI:10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W

Abstract

摘要

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