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[Copy number variation analysis of a Chinese Han family with autism spectrum disorder].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Yan Guodi, Liang Yayong, Wang Ying, Huang Wei, Zou Xiaobing, Zhong Nanbert

Abstract excerpt

OBJECTIVE: To study the copy number variation (CNV) in a Chinese Han autistic spectrum disorder (ASD) pedigree. METHODS: The pedigree involved six siblings, and three of them were autistic. B lymphocytes of the pedigree were immortalized with EBV and used as studying materials. Karyotyping and Affymatrix 500k SNP chip assay were performed to assess the genetic defects among the members of the pedigree. RESULTS:...

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PMID: 21154326
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.011

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