Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
第一作者:
Megan L,Landsverk
第一单位:
Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.
作者:
主题词
碱基配对(Base Pairing);碱基序列(Base Sequence);臂丛神经炎(Brachial Plexus Neuritis);染色体分离(Chromosome Segregation);DNA突变分析(DNA Mutational Analysis);外显子(Exons);家庭(Family);女(雌)性(Female);建立者效应(Founder Effect);GTP磷酸水解酶类(GTP Phosphohydrolases);基因复制(Gene Duplication);基因表达调控(Gene Expression Regulation);疾病遗传易感性(Genetic Predisposition to Disease);单倍型(Haplotypes);人类(Humans);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变(Mutation);北美洲(North America);系谱(Pedigree);RNA, 信使(RNA, Messenger);阅读框(Reading Frames);氯苄乙胺(Septins)
DOI
10.1093/hmg/ddp014
PMID
19139049
发布时间
2021-10-20
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Human molecular genetics
1200-8页
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