Psychosocial aspects of osteogenesis imperfecta: An update

Lethal perinatal osteogenesis imperfecta

Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch

✍ John F. Bateman; Ingrid Moeller; Marnie Hannagan; Danny Chan; William G. Cole 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 787 KB

A single base mismatch was detected by a chemical cleavage method in heteroduplexes formed between patient mRNA and a control collagen aZ(1) cDNA probe in a case of osteogenesis imperfecta type 11. The region of the mRNA mismatch was amplified using the polymerase chain reaction, cloned and sequence