Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. [electronic resource]
Producer: 19970626Description: 378-82 p. digitalISSN:- 1059-7794
- Adolescent
- Adult
- Cells, Cultured
- Child
- Collagen -- analysis
- DNA Mutational Analysis
- Exons -- genetics
- Fibroblasts -- chemistry
- Genes -- genetics
- Glycine -- genetics
- Humans
- Infant
- Osteogenesis Imperfecta -- genetics
- Peptide Mapping
- Phenotype
- Point Mutation -- genetics
- Serine -- genetics
- Skin -- cytology
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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