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

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...

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Hlavní autoři: Dong, Jiamei, Bu, Juan, Du, Wei, Li, Yuan, Jia, Yanlei, Li, Jianchang, Meng, Xiaoli, Yuan, Minghui, Peng, Xiaojuan, Zhou, Aimin, Wang, Lejin
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3261084/
https://ncbi.nlm.nih.gov/pubmed/22262941
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