A novel glycine to glutamic acid substitution at position 343 in the α2 chain of type I collagen in an individual with lethal osteogenesis imperfecta
- 1 December 1993
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 2 (12) , 2175-2177
- https://doi.org/10.1093/hmg/2.12.2175