A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

Abstract Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP. To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consistin...

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Bibliographic Details
Main Authors: Ren Cai, Fatao Liu, Chen Hua, Zhang Yu, Michele Ramien, Claudia Malic, Wenxin Yu, Xiaolin Zhang, Yun Liu, Yunbo Jin, Xun Hu, Xiaoxi Lin
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Hereditas
Subjects:
Capillary malformation-arteriovenous malformation
RASA-1 mutation
RasGAP
China
East Asia
Online Access:http://link.springer.com/article/10.1186/s41065-018-0062-8

Internet

http://link.springer.com/article/10.1186/s41065-018-0062-8

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