A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.
第一作者:
S E,Holmes
第一单位:
Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, The Johns Hopkins University School of Medicine, CMSC 8-121, Baltimore, MD 21287, USA. sholmes1@jhmi.edu
作者:
主题词
等位基因(Alleles);动物(Animals);染色体, 人, 3对(Chromosomes, Human, Pair 3);保守序列(Conserved Sequence);外显子(Exons);女(雌)性(Female);基因, 显性(Genes, Dominant);基因型(Genotype);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);人类(Humans);内含子(Introns);男(雄)性(Male);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);系谱(Pedigree);表型(Phenotype);聚合酶链反应(Polymerase Chain Reaction);脊髓小脑共济失调(Spinocerebellar Ataxias);三核苷酸重复扩增(Trinucleotide Repeat Expansion)
DOI
10.1007/s00439-006-0207-0
PMID
16783570
发布时间
2018-11-13
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Human genetics
193-200页
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