Titre :
  • Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
Auteur : Brakensiek, K ; Frye-Boukhriss, H ; Mälzer, M ; Abramowicz, Marc ; Bahr, M J ; von Beckerath, N ; Bergmann, C ; Caselitz, M ; Holinski-Feder, Elke ; Muschke, P ; Oexle, K ; Strobl-Wildemann, G ; Wolff, G ; El-Harith, E A ; Stuhrmann, Manfred
Informations sur la publication : Clinical genetics, 74, 2, (page 171-177)
Statut de publication : Publié, 2008-08
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Activin Receptors, Type II -- genetics
Adolescent
Adult
Antigens, CD -- genetics
Arteriovenous Malformations -- genetics
Cohort Studies
DNA Mutational Analysis
Female
Genetic Testing
Germany
Humans
Liver Circulation -- genetics
Liver Diseases -- genetics
Male
Middle Aged
Mutation
Receptors, Cell Surface -- genetics
Telangiectasia, Hereditary Hemorrhagic -- complications
Telangiectasia, Hereditary Hemorrhagic -- genetics
Note : Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
FLWIN
Langue :
  • Anglais
Identificateurs : urn:issn:0009-9163 
info:doi/10.1111/j.1399-0004.2008.01029.x
info:pii/CGE1029
info:pmid/18498373