Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1.
Lin
Wei-De
WD
China Medical University Hospital, Department of Medical Research, Medical Genetics, Pediatrics, Yuh-Der RD, 2, 404, Taichung City, Taiwan, ROC.
Lin
Shuan-Pei
SP
Chen
Chih-Ping
CP
Tsai
Fuu-Jen
FJ
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
D003062:Codon; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1