Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.
作者:
主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);等位基因(Alleles);凋亡调节蛋白质类(Apoptosis Regulatory Proteins);计算生物学(Computational Biology);DNA突变分析(DNA Mutational Analysis);基因表达谱(Gene Expression Profiling);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);心脏缺损, 先天性(Heart Defects, Congenital);人类(Humans);潜在性TGFβ结合蛋白质类(Latent TGF-beta Binding Proteins);突变(Mutation);肌细胞, 心脏(Myocytes, Cardiac);表型(Phenotype);多潜能干细胞(Pluripotent Stem Cells);多指(趾)畸形(Polydactyly);放射摄影术(Radiography);超声检查(Ultrasonography)
DOI
10.1111/jcmm.15950
PMID
33098376
发布时间
2022-12-07
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Journal of cellular and molecular medicine
13751-13762页
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