Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
作者信息
Watanabe Y, Benson D W, Yano S, Akagi T, Yoshino M, Murray J C
出版信息
J Med Genet. 2002 Nov;39(11):807-11. doi: 10.1136/jmg.39.11.807.
Abstract
摘要
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Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.NKX2.5基因中的两个新的移码突变导致了包括内脏反位和静脉窦型房间隔缺损在内的新特征。
J Med Genet. 2002 Nov;39(11):807-11. doi: 10.1136/jmg.39.11.807.
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