Osteogenesis imperfecta: translation of mutation to phenotype.

Ítems similars

• Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
  per: Wenstrup, R J, et al.
  Publicat: (1990)
• Lethal osteogenesis imperfecta.
  per: Knisely, A S, et al.
  Publicat: (1989)
• Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
  per: Willing, M C, et al.
  Publicat: (1990)
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.
  per: Wallis, G A, et al.
  Publicat: (1993)
• Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships
  per: Bodian, Dale L., et al.
  Publicat: (2009)