Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Lignende værker

• Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
  af: Bogaert, R., et al.
  Udgivet: (1994)
• An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
  af: Tiller, G E, et al.
  Udgivet: (1995)
• Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
  af: Cohn, D H, et al.
  Udgivet: (1990)
• Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
  af: Tiller, G E, et al.
  Udgivet: (1990)
• Type IX Collagen Neo-Deposition in Degenerative Discs of Surgical Patients Whether Genotyped Plus or Minus for COL9 Risk Alleles
  af: Zhu, Yong, et al.
  Udgivet: (2011)