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Article

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

BMC medical genetics - 1 Aug 2008

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

Abstract excerpt

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 mutations, many of which had not previously been reported, in independent Spanish families afflicted with HHT. RESULTS: We...

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Share to Activin Receptors, Type II
Share to Antigens, CD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Receptors, Cell Surface

Share to Telangiectasia, Hereditary Hemorrhagic

Source

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Identifiers

PMID: 18673552
DOI: 10.1186/1471-2350-9-75
PMCID: PMC2518546

Genes

ENG
ACVRL1

Provenance

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