• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications (all current information on this profile has been aggregated automatically from publisher and metadata sources).
  • Katrina Mackay, Peter H Byers, Raymond Dalgleish
  • Biology, Medicine
  • Human molecular genetics
  • 1993
  • A strategy has been developed to allow the screening for mutations in the cDNA of the type I collagen alpha 1 chain. The method involves polymerase chain reaction amplification of four overlappingContinue Reading
  • Katrina Mackay, Allan Meldgaard Lund, Michael Raghunath, Beat Steinmann, Raymond Dalgleish
  • Biology
  • Human Genetics
  • 1993 (First Published: 1 June 1993)
  • A patient with perinatal lethal osteogenesis imperfecta (OI) type II has been studied in order to identify the causative mutation. By analysis of the type I collagen produced by cultured fibroblastsContinue Reading
  • Katrina Mackay, Michael Raghunath, Andrea Superti-Furga, Beat Steinmann, Raymond Dalgleish
  • Biology, Medicine
  • Clinical genetics
  • 1996 (First Published: 28 June 2008)
  • Three patients with Ehlers-Danlos syndrome type IV (EDS IV) and biochemical evidence of structural defects in collagen III were investigated for mutations within the collagen III gene (COL3A1).Continue Reading
  • Nicola J. Rose, Katrina Mackay, Anne De Paepe, Beat Steinmann, Hope H. Punnett, Raymond Dalgleish
  • Biology, Medicine
  • Human Genetics
  • 1994 (First Published: 1 November 1994)
  • In general, osteogenesis imperfecta is caused by heterozygous mutations in either of the genes encoding the α1 or α2 chains of type I collagen (COL1A1 and COL1A2, respectively). Usually, theseContinue Reading