A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree.
Li
Yuchan
Y
Wang
Jian
J
Li
Huaiyuan
H
Wang
Jing
J
Wang
Xuefeng
X
Fu
Qihua
Q
D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D000099058:Exostosin 1
D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1