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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2006
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Original Article
Linkit: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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