A single base mutation that converts glycine 907 of the α2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference48 articles.
1. Collagen genes and inherited connective tissue disease
2. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
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1. The triple helix of collagens – an ancient protein structure that enabled animal multicellularity and tissue evolution;Journal of Cell Science;2018-04-01
2. Expression of mutant α(I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV;Journal of Bone and Mineral Research;2009-12-03
3. Glycine Substitution Mutations Cause Intracellular Accumulation of Collagen XVII and Affect Its Post-Translational Modifications;Journal of Investigative Dermatology;2009-09
4. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood;Human Mutation;2007
5. Osteogenesis Imperfecta;Metabolic Bone Disease and Clinically Related Disorders;1998
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