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Case Report: The nonsense variation of the cardiac transcription factor has been identified in a Chinese family with nonsyndromic congenital heart disease.病例报告：在中国一个非综合征型先天性心脏病家族中，已鉴定出心脏转录因子的无义变异。
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Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.Nkx2.5：心脏发育、再生及疾病的关键调节因子。
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Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.全外显子组测序揭示了日本内脏转位胎儿中 DNAH9 和 RSPH1 基因的极罕见单核苷酸多态性的组合。
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A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome.一名患有无脾综合征的日本新生儿中轴丝动力蛋白重链基因5（DNAH5）的新型突变。
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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.

DOI:10.1136/jmg.39.11.807
PMID:12414819
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735007/
Abstract
摘要