Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.
第一作者:
Alexander,Kolevzon
第一单位:
Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY 10029, USA.
作者:
医学主题词
动物(Animals);孤独性障碍(Autistic Disorder);载体蛋白质类(Carrier Proteins);儿童(Child);基因缺失(Gene Deletion);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);男(雄)性(Male);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);转录, 遗传(Transcription, Genetic)
DOI
10.1016/j.brainres.2010.11.005
PMID
21062623
发布时间
2012-11-15
- 浏览23
Brain research
98-105页
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