The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
作者:
主题词
碱基序列(Base Sequence);染色体, 人, 3对(Chromosomes, Human, Pair 3);DNA结合蛋白质类(DNA-Binding Proteins);基因连锁(Genetic Linkage);疾病遗传易感性(Genetic Predisposition to Disease);高尔基体(Golgi Apparatus);单倍型(Haplotypes);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);人类(Humans);包涵体(Inclusion Bodies);日本(Japan);分子序列数据(Molecular Sequence Data);运动神经元(Motor Neurons);系谱(Pedigree);点突变(Point Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质类(Proteins);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1016/j.ajhg.2012.07.014
PMID
22883144
发布时间
2022-04-08
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