A 651-665delinsTT mutation in EXT1 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
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D000099058:Exostosin 1
D004247:DNA; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1