The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent?

Mutation screening of the fibrillin-1 (F

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

✍ Kathrin Rommel; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3