Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia
<p>Abstract</p> <p>Background</p> <p>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.</p> <p&...
Main Authors: | Blanco Francisco J, Garrido-Martin Eva M, Albiñana Virginia, García-Alegria Eva, Fernandez-L Africa, Fontalba Ana, Zarrabeitia Roberto, Perez-Molino Alfonso, Bernabeu-Herrero Maria E, Ojeda Maria-Luisa, Fernandez-Luna Jose L, Bernabeu Carmelo, Botella Luisa M |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2008-08-01
|
Series: | BMC Medical Genetics |
Online Access: | http://www.biomedcentral.com/1471-2350/9/75 |
Similar Items
-
Research on Potential Biomarkers in Hereditary Haemorrhagic Telangiectasia
by: Luisa Maria Botella, et al.
Published: (2015-03-01) -
Differential Expression of Circulating Plasma miRNA-370 and miRNA-10a from Patients with Hereditary Hemorrhagic Telangiectasia
by: Lidia Ruiz-Llorente, et al.
Published: (2020-09-01) -
Review of Pharmacological Strategies with Repurposed Drugs for Hereditary Hemorrhagic Telangiectasia Related Bleeding
by: Virginia Albiñana, et al.
Published: (2020-06-01) -
Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia
by: Carmelo Bernabeu, et al.
Published: (2020-11-01) -
5'UTR mutations of <it>ENG </it>cause hereditary hemorrhagic telangiectasia
by: Damjanovich Kristy, et al.
Published: (2011-12-01)