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Title: The human type I collagen mutation database
Authors: Dalgleish, Raymond
First Published: 1-Jan-1997
Publisher: Oxford University Press (OUP)
Citation: Nucleic Acids Research, 1997, 25 (1), pp. 181-187
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
DOI Link: 10.1093/nar/25.1.181
ISSN: 0305-1048
eISSN: 1362-4962
Type: Journal Article
Rights: Archived with reference to SHERPA/RoMEO and publisher website. Copuright 1997 Oxford University Press. Version of record:
Description: DDBJ/EMBL/GenBank accession nos Z74615 and Z74616
Appears in Collections:Published Articles, Dept. of Genetics

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