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The human type I collagen mutation database

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journal contribution
posted on 24.10.2012, 09:22 by Raymond Dalgleish
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

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Citation

Nucleic Acids Research, 1997, 25 (1), pp. 181-187

Published in

Nucleic Acids Research

Publisher

Oxford University Press (OUP)

issn

0305-1048

eissn

1362-4962

Copyright date

1997

Available date

24/10/2012

Publisher version

http://nar.oxfordjournals.org/content/25/1/181

Notes

DDBJ/EMBL/GenBank accession nos Z74615 and Z74616

Language

en

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