SMAD4 mutations found in unselected HHT patients

BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease exhibiting multifocal vascular telangiectases and arteriovenous malformations. The majority of cases are caused by mutations in either the endoglin (ENG) or activin receptor‐like kinase 1 (ALK1, ACVRL1) genes;...

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Detalhes bibliográficos
Main Authors: Gallione, C J, Richards, J A, Letteboer, T G W, Rushlow, D, Prigoda, N L, Leedom, T P, Ganguly, A, Castells, A, van Amstel, J K Ploos, Westermann, C J J, Pyeritz, R E, Marchuk, D A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563178/
https://ncbi.nlm.nih.gov/pubmed/16613914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.041517
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