换一批Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
第一作者：
Lam S,Nguyen
第一单位：
School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5006, Australia.
作者：
医学主题词
青少年(Adolescent);病例对照研究(Case-Control Studies);儿童(Child);密码子, 无义(Codon, Nonsense);计算生物学(Computational Biology);DEAD-box RNA解旋酶类(DEAD-box RNA Helicases);DNA拷贝数变异(DNA Copy Number Variations);发育障碍(Developmental Disabilities);真核细胞起始因子4A(Eukaryotic Initiation Factor-4A);女(雌)性(Female);基因缺失(Gene Deletion);基因剂量(Gene Dosage);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);神经元(Neurons);RNA, 信使(RNA, Messenger);RNA结合蛋白质类(RNA-Binding Proteins);核糖核蛋白类(Ribonucleoproteins);序列分析, RNA(Sequence Analysis, RNA);末端转移酶端粒(Telomerase);转录因子(Transcription Factors)
DOI
10.1093/hmg/ddt035
PMID
23376982
发布时间
2022-03-30
- 浏览4
Human molecular genetics
1816-25页
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