AMPD1 functional variants associated with autism in Han Chinese population.

doi:10.1007/s00406-014-0524-6

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Article

AMPD1 functional variants associated with autism in Han Chinese population.

European archives of psychiatry and clinical neuroscience - 1 Sept 2015

Zhang Lusi, Ou Jianjun, Xu Xiaojuan, Peng Yu, Guo Hui, Pan Yongcheng, Chen Jingjing, Wang Tianyun, Peng Hao, Liu Qiong, Tian Di, Pan Qian, Zou Xiaobin, Zhao Jingping, Hu Zhengmao, Xia Kun

Abstract excerpt

Autism is a childhood neurodevelopmental disorder with high heterogeneity. Following our genome-wide associated loci with autism, we performed sequencing analysis of the coding regions, UTR and flanking splice junctions of AMPD1 in 830 Chinese autism individuals as well as 514 unrelated normal controls. Fourteen novel variants in the coding sequence were identified, including 11 missense variants and 3 synonymous...

Topics

AMP Deaminase
Adolescent
Asian People
Autistic Disorder
Cell Line
Child
Child, Preschool
China
Female
Humans
L-Lactate Dehydrogenase
Male
Mitochondria
Mutation

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Open in PubMed

Identifiers

PMID: 25155876
DOI: 10.1007/s00406-014-0524-6

Genes

AMPD1

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