Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

مواد مشابهة

• Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation
  بواسطة: Nuytinck, L., وآخرون
  منشور في: (2000)
• A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement
  بواسطة: Symoens, Sofie, وآخرون
  منشور في: (2011)
• Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems
  بواسطة: Malfait, F, وآخرون
  منشور في: (2006)
• Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
  بواسطة: Malfait, Fransiska, وآخرون
  منشور في: (2013)
• Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain.
  بواسطة: Mäkelä, J K, وآخرون
  منشور في: (1988)