The human type I collagen mutation database
R Dalgleish - Nucleic acids research, 1997 - academic.oup.com
R Dalgleish
Nucleic acids research, 1997•academic.oup.comType 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 Marfan syndrome are also the result of mutations at these loci. The mutation data are …
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 Marfan syndrome are also the result of mutations at these loci. The mutation data are …
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 Marfan syndrome are also the result of mutations at these loci. The mutation data are accessible on the world wide web at http://www.le.ac.uk/depts/ge/collagen/collagen.html
Oxford University Press