An R223P mutation in EXT2 gene causes hereditary multiple exostoses.
Shi
Y R
YR
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
Wu
J Y
JY
Tsai
F J
FJ
Lee
C C
CC
Tsai
C H
CH
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
D011506:Proteins; D001120:Arginine; D011392:Proline; D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2