๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Defective Calcium Binding to Fibrillin-1: Consequence of an N2144S Change for Fibrillin-1 Structure and Function

โœ Scribed by Susan Kettle; Xuemei Yuan; Gabrielle Grundy; Vroni Knott; A.Kristina Downing; Penny A. Handford

Book ID
115628982
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
267 KB
Volume
285
Category
Article
ISSN
0022-2836

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Bovine model of Marfan syndrome results
Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
โœ Annie C. Singleton; Anna L. Mitchell; Peter H. Byers; Kathleen A. Potter; James ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 218 KB

Marfan Syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin-1 gene (FBN1). Several calves, all sired by a phenotypically normal bull, were found to exhibit the major clinical and pathological characteristics of human MFS (aortic dissection, joint laxity, lens disloca