Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.
第一作者:
Huan,Liu
第一单位:
Department of Anatomy and Cell Biology, Iowa City, U.S.A.
作者:
医学主题词
等位基因(Alleles);动物(Animals);唇裂(Cleft Lip);腭裂(Cleft Palate);计算生物学(Computational Biology);疾病模型, 动物(Disease Models, Animal);女(雌)性(Female);GTP酶激活蛋白质类(GTPase-Activating Proteins);基因频率(Gene Frequency);全基因组关联研究(Genome-Wide Association Study);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);男(雄)性(Male);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);危险因素(Risk Factors);序列分析, DNA(Sequence Analysis, DNA);斑马鱼(Zebrafish)
DOI
10.1002/bdra.23596
PMID
28029220
发布时间
2023-08-02
- 浏览38
Birth defects research
2017年109卷1期
27-37页
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