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A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1

BACKGROUND—Pulmonary arteriovenous malformations (PAVMs) occur in over 25% of patients with the autosomal dominant disorder hereditary haemorrhagic telangiectasia (HHT). Mutations in two genes, endoglin and ALK-1, are known to cause HHT. Each encodes a protein expressed on vascular endothelial cells...

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Detalhes bibliográficos
Main Authors: Wallace, G, Shovlin, C
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1745830/
https://ncbi.nlm.nih.gov/pubmed/10899246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thorax.55.8.685
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