Novel mutations of EXT1 and EXT2 genes among families and sporadic cases with multiple exostoses.
Pei
Yuanyuan
Y
Department of Medical Genetics, Zhongshan School of Medicine and Center for Genome Research, Sun Yat-Sen University, Guangzhou, P.R. China.
Wang
Yiming
Y
Huang
Weijun
W
Hu
Bin
B
Huang
Dongsheng
D
Zhou
Yan
Y
Su
Peiqiang
P
D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D011859:Radiography; D000099065:Exostosin 2; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2