Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen.

doi:10.1016/s0934-8832(11)80169-1

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Article

Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen.

Matrix (Stuttgart, Germany) - 1 Jul 1990

Valli M, Tenni R, Cetta G

Abstract excerpt

This report describes the biochemical investigations on six patients affected by a moderate form of Osteogenesis Imperfecta (type IV according to the Sillence classification). Biochemical characterization of type I collagen produced by skin fibroblasts showed considerable heterogeneity: in three...

Topics

Child
Child, Preschool
Collagen
Female
Fibroblasts
Humans
Male
Mutation
Osteogenesis Imperfecta
Peptide Mapping
Protein Conformation
Skin

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