title: Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1.
authors.affiliation: China Medical University Hospital, Department of Medical Research, Medical Genetics, Pediatrics, Yuh-Der RD, 2, 404, Taichung City, Taiwan, ROC.
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D003062:Codon / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D000099058:Exostosin 1
chemical_list: D003062:Codon; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1