A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.

This publication has 32 references indexed in Scilit:

• Brittle bones - fragile molecules: disorders of collagen gene structure and expression
  Published by Elsevier ,2002
• Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man.
  Journal of Medical Genetics, 1989
• Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue
  American Journal of Medical Genetics, 1989
• A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
  Journal of Clinical Investigation, 1989
• Lysyl Oxidase in Osteogenesis Imperfecta and Marfan's Syndrome
  Collagen and Related Research, 1988
• Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage
  Science, 1987
• Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II
  Nature, 1985
• Nucleotide sequences of complementary deoxyribonucleic acids for the pro.alpha.1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution
  Biochemistry, 1983
• Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography
  European Journal of Biochemistry, 1975
• Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
  Nature, 1970