Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

BACKGROUND: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant and age-dependent vascular disorder characterised mainly by mutations in the Endoglin (ENG) or activin receptor-like kinase-1 (ALK1, ACVRL1) genes. METHODS: Here, we have identified 22 ALK1 mutations and 15 ENG mutation...

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Hlavní autoři: Fontalba, Ana, Fernandez-L, Africa, García-Alegria, Eva, Albiñana, Virginia, Garrido-Martin, Eva M, Blanco, Francisco J, Zarrabeitia, Roberto, Perez-Molino, Alfonso, Bernabeu-Herrero, Maria E, Ojeda, Maria-Luisa, Fernandez-Luna, Jose L, Bernabeu, Carmelo, Botella, Luisa M
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2008
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518546/
https://ncbi.nlm.nih.gov/pubmed/18673552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-75
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