A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
Lee
E H
EH
Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
Park
J H
JH
Coe
C J
CJ
Hahn
S H
SH
D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D012497:Sandhoff Disease / Q000150:complications / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D001619:beta-N-Acetylhexosaminidases