[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0].

doi:10.3760/cma.j.issn.1003-9406.2009.03.022

Article

[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2009

Ma Fen, Wu Feng-xia, Li Ning, Liu Qing, Yang Wei, Zhang Xue, Sun Miao

Abstract excerpt

OBJECTIVE: To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR). METHODS: Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0].

Abstract excerpt

Topics

Related research