Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

Lignende værker

• Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta
  af: Pace, James M., et al.
  Udgivet: (2008)
• COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing
  af: Barnes, Aileen M., et al.
  Udgivet: (2019)
• The dental perspective on osteogenesis imperfecta in a Danish adult population
  af: Thuesen, Kirstine Juhl, et al.
  Udgivet: (2018)
• Chondrocalcin is identical with the C-propeptide of type II procollagen.
  af: Van der Rest, M, et al.
  Udgivet: (1986)
• The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues.
  af: Cole, W G, et al.
  Udgivet: (1990)