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Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

par 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
Référence Clinical genetics, 74, 2, page (171-177)
Publication Publié, 2008-08

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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
MeSH keywords:	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 générale:	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:scp/47149094695
	info:pmid/18498373