N. J. Rose

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.

P. Byers, R. Dalgleish, K. Mackay, 1993, Human molecular genetics.

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

P. Byers, R. Dalgleish, K. Mackay, 1994, Human mutation.

A study of human collagen genes and the molecular genetics of osteogenesis imperfecta

N. J. Rose, Nicola J. Rose, 1993 .

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the α2-chain of type I collagen

R. Dalgleish, A. Paepe, B. Steinmann, 1994, Human Genetics.

A Gly238Ser substitution in the α2 chain of type I collagen results in osteogenesis imperfecta type III

P. Byers, R. Dalgleish, K. Mackay, 1995, Human Genetics.