Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.

Tenni, R

Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis. [electronic resource] - Human genetics Jul 1988 - 245-50 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0340-6717

10.1007/BF00366245 doi


Cells, Cultured
Child
Child, Preschool
Cyanogen Bromide
Fibroblasts--cytology
Humans
Macromolecular Substances
Male
Osteogenesis Imperfecta--genetics
Peptide Mapping
Procollagen--genetics
Proteoglycans--metabolism
Reference Values
Skin--metabolism