Mutation analysis of <it>"Endoglin" </it>and <it>"Activin receptor-like kinase" </it>genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique

• 主要な著者: Haneen Sadick (著者), Johanna Hage (著者), Ulrich Goessler (著者), Jens Stern-Straeter (著者), Frank Riedel (著者), Karl Hoermann (著者), Peter Bugert (著者)
• フォーマット: 図書
• 出版事項: BMC, 2009-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenou...