Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.

Autor: Nicholls, Alan C., Oliver, Jane, McCarron, Seamus, Winter, Gerald B., Pope, F. Michael
Zdroj: Human Mutation; 1996, Vol. 7 Issue 3, p219-227, 9p
Databáze: Complementary Index
Externí odkaz: