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

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 consisting of Cauc...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hereditas
Prif Awduron: Cai, Ren, Liu, Fatao, Hua, Chen, Yu, Zhang, Ramien, Michele, Malic, Claudia, Yu, Wenxin, Zhang, Xiaolin, Liu, Yun, Jin, Yunbo, Hu, Xun, Lin, Xiaoxi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2018
Pynciau:
Brief Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048896/
https://ncbi.nlm.nih.gov/pubmed/30026675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s41065-018-0062-8
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