Multi-exon deletions of the <it>FBN1</it> gene in Marfan syndrome

• Autors principals: Schrijver Iris (Autor), Liu Wanguo (Autor), Brenn Thomas (Autor), Furthmayr Heinz (Autor), Francke Uta (Autor)
• Format: Llibre
• Publicat: BMC, 2001-10-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Mutations in the fibrillin -1 gene <it>(FBN1)</it> cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene in...