English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/7695
Compartir / Impacto:
Estadísticas
Add this article to your Mendeley library MendeleyBASE
Citado 15 veces en Web of Knowledge®  |  Pub MebCentral Ver citas en PubMed Central  |  Ver citas en Google académico
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar otros formatos: Exportar EndNote (RIS)Exportar EndNote (RIS)Exportar EndNote (RIS)
Título : Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia
Autor : Fontalba, Ana; Fernandez-Lopez, Africa ; Albiñana, Virginia ; Garrido-Martin, Eva M. ; Blanco, Francisco J. ; Bernabeu Herrero, María Elvira; Ojeda-Fernández, María Luisa ; Bernabéu, Carmelo ; Botella, Luisa María
Palabras clave : Hereditary hemorrhagic Talangiectasia
Mutation study
Spain
Fecha de publicación : 1-ago-2008
Editor: BioMed Central
Citación : BMC Medical Genetics 2008, 9:75
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 : 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.pdfArticulo principal476,48 kBAdobe PDFVista previa
Visualizar/Abrir
1471-2350-9-75-s1.xlsTabla 151 kBMicrosoft ExcelVisualizar/Abrir
1471-2350-9-75-s2.xlsTabla 2255,5 kBMicrosoft ExcelVisualizar/Abrir
Mostrar el registro completo
 



NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.