Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Guangming Fang, Jinxin Miao, Ying Peng, Yafei Zhai, Chuchu Wang, Xiaoyan Zhao, Yaohe Wang, Jianzeng Dong
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Compuscript 2020-09-01
Cyfres:Cardiovascular Innovations and Applications
Pynciau:
Mynediad Ar-lein:https://www.ingentaconnect.com/content/cscript/cvia/2020/00000005/00000001/art00003
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!