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

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 mol...

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Veröffentlicht in:Clinical genetics 2008-08, Vol.74 (2), p.171-177
Hauptverfasser: 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
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Sprache:eng
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