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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
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
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...     »
Journal title abbreviation:
Clin Genet
Year:
2008
Journal volume:
74
Journal issue:
2
Pages contribution:
171-7
Language:
eng
Fulltext / DOI:
doi:10.1111/j.1399-0004.2008.01029.x
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/18498373
Print-ISSN:
0009-9163
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie)
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