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[Detection of pathogenic mutations in Marfan syndrome by targeted next-generation semiconductor sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013

Lu Chaoxia, Wu Wei, Xiao Jifang, Meng Yan, Zhang Shuyang, Zhang Xue

Abstract excerpt

OBJECTIVE: To detect pathogenic mutations in Marfan syndrome (MFS) using an Ion Torrent Personal Genome Machine (PGM) and to validate the result of targeted next-generation semiconductor sequencing for the diagnosis of genetic disorders. METHODS: Peripheral blood samples were collected from three MFS patients and a normal control with informed consent. Genomic DNA was isolated by standard method and then...

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Identifiers

PMID: 23744319
DOI: 10.3760/cma.j.issn.1003-9406.2013.03.011

Genes

FBN1
TGFBR1
TGFBR2

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