Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
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Williams, C. J., Rock, M., Considine, E., McCarron, S., Gow, P., Ladda, R., ... Prockop, D. J.
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Williams, CJ||Rock, M||Considine, E||McCarron, S||Gow, P||Ladda, R||McLain, D||Michels, VM||Murphy, W||Prockop, DJ
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Achondroplasia
Amino Acid Sequence
Arginine
Base Composition
Base Sequence
Bone Diseases, Developmental
Cysteine
Deoxyribonucleases, Type II Site-Specific
Electrophoresis, Polyacrylamide Gel
Family Health
Female
Humans
Joint Diseases
Male
Molecular Sequence Data
Nucleic Acid Conformation
Pedigree
Point Mutation
Polymerase Chain Reaction
Procollagen
Restriction Mapping
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http://dx.doi.org/10.1093/hmg/4.2.309