Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/7695COMPARTIR / EXPORTAR:
 SHARE
 CORE
BASE
|
|
| Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
| Título: | Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia |
Autor: | Fontalba, Ana; Fernandez-Lopez, Africa CSIC; Albiñana, Virginia CSIC; Garrido-Martin, Eva M. CSIC; Blanco, Francisco J. CSIC ; Bernabeu Herrero, María Elvira; Ojeda-Fernández, María Luisa CSIC; Bernabéu, Carmelo CSIC ORCID ; Botella, Luisa María CSIC ORCID | Palabras clave: | Hereditary hemorrhagic Talangiectasia Mutation study Spain |
Fecha de publicación: | 1-ago-2008 | Editor: | BioMed Central | Citación: | BMC Medical Genetics 9 (75): 2008 | Resumen: | 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 identified mutations in thirty-seven unrelated families. A detailed analysis of clinical symptoms was recorded for each patient analyzed, with a higher significant presence of pulmonary arteriovenous malformations (PAVM) in HHT1 patients over HHT2. Twenty-two mutations in ALK1 and fifteen in ENG genes were identified. Many of them, almost half, represented new mutations in ALK1 and in ENG. Missense mutations in ENG and ALK1 were localized in a tridimensional protein structure model. Conclusion Overall, ALK1 mutations (HHT2) were predominant over ENG mutations (HHT1) in our Spanish population, in agreement with previous data from our country and other Mediterranean countries (France, Italy), but different to Northern Europe or North America. There was a significant increase of PAVM associated with HHT1 over HHT2 in these families. | Descripción: | Fontalba, Ana et al. 8 p.-1 fig. | Versión del editor: | http://dx.doi.org/10.1186/1471-2350-9-75 | URI: | http://hdl.handle.net/10261/7695 | DOI: | 10.1186/1471-2350-9-75 | ISSN: | 1471-2350 | E-ISSN: | 1471-2350 |
| Aparece en las colecciones: | (CIB) Artículos |
Ficheros en este ítem:
| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| 1471-2350-9-75.pdf | Articulo principal | 476,48 kB | Adobe PDF |  Visualizar/Abrir |
| 1471-2350-9-75-s1.xls | Tabla 1 | 51 kB | Microsoft Excel | Visualizar/Abrir |
| 1471-2350-9-75-s2.xls | Tabla 2 | 255,5 kB | Microsoft Excel | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
13
checked on 05-may-2024
SCOPUSTM
Citations
28
checked on 03-may-2024
WEB OF SCIENCETM
Citations
26
checked on 26-feb-2024
Page view(s)
446
checked on 09-may-2024
Download(s)
402
checked on 09-may-2024
Google ScholarTM
Check
Altmetric
Altmetric
Artículos relacionados:
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.