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Article

Exome sequencing identified new mutations in a Marfan syndrome family.

Diagnostic pathology - 31 Jan 2014

Li Guangxin, Yu Jian, Wang Kun, Wang Bin, Wang Minghai, Zhang Shuguang, Qin Shiyong, Yu Zhenhai

Abstract excerpt

Marfan syndrome is a common autosomal dominant hereditary connective tissue disorder. There is no cure for Marfan syndrome currently. Next-generation sequencing (NGS) technology is efficient to identify genetic lesions at the exome level. Here we carried out exome sequencing of two Marfan syndrome patients. Further Sanger sequencing validation in other five members from the same family was also implemented to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24484584
DOI: 10.1186/1746-1596-9-25
PMCID: PMC3918099

Genes

FBN1
LRP1

Provenance

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