Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Details
Serval ID
serval:BIB_D620BCFB7AF1
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Journal
Annals of the New York Academy of Sciences
ISSN
0077-8923 (Print)
ISSN-L
0077-8923
Publication state
Published
Issued date
1988
Peer-reviewed
Oui
Volume
543
Pages
85-92
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Keywords
Cells, Cultured, Collagen/genetics, Collagen/metabolism, Female, Genes, Lethal, Humans, Infant, Male, Mutation, Osteogenesis Imperfecta/genetics, Osteogenesis Imperfecta/metabolism, Pedigree, Protein Conformation, Skin/metabolism
Pubmed
Create date
06/06/2013 21:48
Last modification date
24/02/2024 8:34
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