title: 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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
authors.forename: C J
authors.initials: CJ
authors.lastname: Williams
authors.forename: M
authors.initials: M
authors.lastname: Rock
authors.forename: E
authors.initials: E
authors.lastname: Considine
authors.forename: S
authors.initials: S
authors.lastname: McCarron
authors.forename: P
authors.initials: P
authors.lastname: Gow
authors.forename: R
authors.initials: R
authors.lastname: Ladda
authors.forename: D
authors.initials: D
authors.lastname: McLain
authors.forename: V M
authors.initials: VM
authors.lastname: Michels
authors.forename: W
authors.initials: W
authors.lastname: Murphy
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
mesh_terms: D000130:Achondroplasia / Q000235:genetics; D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D001482:Base Composition; D001483:Base Sequence; D001848:Bone Diseases, Developmental / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D005192:Family Health; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000235:genetics*; D015183:Restriction Mapping
chemical_list: D011347:Procollagen; D001120:Arginine; D015252:Deoxyribonucleases, Type II Site-Specific; D003545:Cysteine