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Dokumenttyp:
journal article 
Autor(en):
Brakensiek, K; Frye-Boukhriss, H; Mälzer, M; Abramowicz, M; Bahr, MJ; von Beckerath, N; Bergmann, C; Caselitz, M; Holinski-Feder, E; Muschke, P; Oexle, K; Strobl-Wildemann, G; Wolff, G; El-Harith, EA; Stuhrmann, M 
Titel:
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. 
Abstract:
Hereditary haemorrhagic telangiectasia (HHT) is a heterogeneous multisystemic dysplasia of the vascular tissue. This autosomal dominant inherited disorder shows a wide variation in its phenotypic expression. Between 8 and 78% of the HHT patients show arteriovenous malformations of the liver. The molecular basis for hepatic manifestation is still unknown. Two genes are known to play a major role in the development of HHT: activin A receptor type II-like 1 gene (ACVRL1) and ENG. Previously, we and...    »
 
Zeitschriftentitel:
Clin Genet 
Jahr:
2008 
Band / Volume:
74 
Heft / Issue:
Seitenangaben Beitrag:
171-7 
Sprache:
eng 
Print-ISSN:
0009-9163 
TUM Einrichtung:
I. Medizinische Klinik und Poliklinik