title: Novel human pathological mutations. Gene symbol: EXT1. Disease: multiple exostoses.
authors.affiliation: Department of Medical Genetics, College of Chinese Medicine, China Medical University, Asia University, China Medical University Hospital, Taichung, Taiwan, ROC. d0704@mail.cmuh.org.tw
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: Fuu-Jer
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics; D005091:Exons; D005097:Exostoses, Multiple Hereditary / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D017384:Sequence Deletion; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D003062:Codon; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2