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]
Producer: 19961230Description: 28617-23 p. digitalISSN:- 0021-9258
- 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
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Publication Type: Case Reports; Journal Article
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