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Article

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.

Molecular vision - 1 Jan 2012

Dong Jiamei, Bu Juan, Du Wei, Li Yuan, Jia Yanlei, Li Jianchang, Meng Xiaoli, Yuan Minghui, Peng Xiaojuan, Zhou Aimin, Wang Lejin

Abstract excerpt

PURPOSE: Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS: It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated...

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Identifiers

PMID: 22262941
PMCID: PMC3261084

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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