换一批
换一批Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
第一作者：
Helen R,Griffin
第一单位：
Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
作者：
主题词
碱基配对(Base Pairing);病例对照研究(Case-Control Studies);染色体缺失(Chromosome Deletion);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);人类(Humans);多态性, 单核苷酸(Polymorphism, Single Nucleotide);T盒域蛋白质类(T-Box Domain Proteins);法乐四联症(Tetralogy of Fallot);转录激活(Transcriptional Activation)
DOI
10.1136/hrt.2010.200121
PMID
20937753
发布时间
2021-10-20
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