title: An R223P mutation in EXT2 gene causes hereditary multiple exostoses.
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
authors.forename: Y R
authors.initials: YR
authors.lastname: Shi
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine; D044466:Asian People; D002681:China; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases; D011392:Proline; D011506:Proteins / Q000235:genetics*; D013624:Taiwan; D000099065:Exostosin 2
chemical_list: D011506:Proteins; D001120:Arginine; D011392:Proline; D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2