Stability related bias in residues replacing glycines within the collagen triple helix (Gly‐Xaa‐Yaa) in inherited connective tissue disorders
Abstract
A missense mutation leading to the replacement of one Gly in the (Gly-Xaa-Yaa)n repeat of the collagen triple helix can cause a range of heritable connective tissue disorders that depend on the gene in which the mutation occurs. Osteogenesis imperfecta results from mutations in type I collagen, Ehlers-Danlos syndrome type IV from mutations in type III collagen, Alport syndrome from mutations in type IV collagen, and dystrophic epidermolysis...
Paper Details
Title
Stability related bias in residues replacing glycines within the collagen triple helix (Gly‐Xaa‐Yaa) in inherited connective tissue disorders
Published Date
Oct 1, 2004
Journal
Volume
24
Issue
4
Pages
330 - 337
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