𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutations in the ABCC8 (SUR1 subunit of the KATP channel) gene are associated with a variable clinical phenotype

✍ Scribed by Tomasz Klupa; Irina Kowalska; Krystyna Wyka; Jan Skupien; Ann-Marie Patch; Sarah E. Flanagan; Anna Noczynska; Malgorzata Arciszewska; Sian Ellard; Andrew T. Hattersley; Jacek Sieradzki; Wojciech Mlynarski; Maciej T. Malecki


Book ID
108704349
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
105 KB
Volume
71
Category
Article
ISSN
0300-0664

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Delineation of the Marfan phenotype asso
✍ Putnam, Elizabeth A.; Cho, Mimi; Zinn, Arthur B.; Towbin, Jeffrey A.; Byers, Pet πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 80 KB πŸ‘ 2 views

Marfan syndrome is a dominantly inherited connective tissue disorder with a wide range of phenotypic severity. The condition is the result of mutations in FBN1, a large gene composed of 65 exons encoding the fibrillin-1 protein. While mutations causing classic manifestations of Marfan syndrome have