Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.

Détails

ID Serval
serval:BIB_D620BCFB7AF1
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Périodique
Annals of the New York Academy of Sciences
Auteur⸱e⸱s
Superti-Furga A., Royce P.M., Pistone F.M., Romano C., Steinmann B.
ISSN
0077-8923 (Print)
ISSN-L
0077-8923
Statut éditorial
Publié
Date de publication
1988
Peer-reviewed
Oui
Volume
543
Pages
85-92
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Mots-clé
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
Création de la notice
06/06/2013 20:48
Dernière modification de la notice
24/02/2024 7:34
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