Review paper

The human type I collagen mutation database

Volume: 25, Issue: 1, Pages: 181 - 187
Published: Jan 1, 1997
Abstract
Type I collagen is the most abundant and ubiquitously distributed of the collagen family of proteins. It is a heterotrimer comprising two α1(I) chains and one α2(I) chain which are encoded by the unlinked loci COL1A1 and COL1A2 respectively. Mutations at these loci result primarily in the connective tissue disorders osteogenesis imperfecta and Ehlers-Danlos syndrome types VIIA and VIIB. Two instances of osteoporosis and a single instance of...
Paper Details
Title
The human type I collagen mutation database
Published Date
Jan 1, 1997
Volume
25
Issue
1
Pages
181 - 187
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