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Identification of Three FBN1 Mutations in Chinese Patients with Typical or Incomplete Marfan Syndrome by Whole-Exome Sequencing

Objective: The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome (MFS) or incomplete MFS phenotypes. Methods: Three unrelated patients with a definite or suspected clinical diagnosis of MFS and their family members were re...

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Hlavní autoři: Guangming Fang, Jinxin Miao, Ying Peng, Yafei Zhai, Chuchu Wang, Xiaoyan Zhao, Yaohe Wang, Jianzeng Dong
Médium: Artigo
Jazyk:Inglês
Vydáno: Compuscript 2020-09-01
Edice:Cardiovascular Innovations and Applications
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On-line přístup:https://www.ingentaconnect.com/content/cscript/cvia/2020/00000005/00000001/art00003
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