Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta. [electronic resource]
- The Journal of biological chemistry Nov 1996
- 28617-23 p. digital
Publication Type: Case Reports; Journal Article
0021-9258
10.1074/jbc.271.45.28617 doi
Adult Aged Alleles Alternative Splicing Child Collagen--genetics DNA, Complementary--analysis Female Humans Male Osteogenesis Imperfecta--genetics Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Procollagen--genetics RNA, Messenger--chemistry Sequence Analysis, DNA