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...

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Detalhes bibliográficos
Publicado no:Hereditas
Main Authors: Cai, Ren, Liu, Fatao, Hua, Chen, Yu, Zhang, Ramien, Michele, Malic, Claudia, Yu, Wenxin, Zhang, Xiaolin, Liu, Yun, Jin, Yunbo, Hu, Xun, Lin, Xiaoxi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Brief Report
Acesso em linha: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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