𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

✍ Scribed by Stheneur, Chantal; Collod-Béroud, Gwenaëlle; Faivre, Laurence; Buyck, Jean François; Gouya, Laurent; Le Parc, Jean-Marie; Moura, Bertrand; Muti, Christine; Grandchamp, Bernard; Sultan, Gilles


Book ID
109849128
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
158 KB
Volume
17
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Evaluation and application of denaturing
✍ Gábor Mátyás; Anne De Paepe; Dorothy Halliday; Catherine Boileau; Gerard Pals; B 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 571 KB

## Communicated by Darwin Prockop Mutations in the human fibrillin 1 gene (FBN1) cause the Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Knowledge about FBN1 mutations is important for early diagnosis, management, and genetic counseling. However, mutation detection in FB

Mutation screening of the fibrillin-1 (F
✍ 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

Progeroid facial features and lipodystro
✍ Denise Horn; Peter N. Robinson 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB 👁 2 views

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report o