Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. [electronic resource]
Producer: 19931112Description: 1994-2002 p. digitalISSN:- 0021-9738
- Adolescent
- Alleles
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Collagen -- biosynthesis
- Exons
- Female
- Fibroblasts -- metabolism
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Osteogenesis Imperfecta -- genetics
- Polymerase Chain Reaction
- RNA, Messenger -- genetics
- Skin -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
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