A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Zhang
Z X
ZX
McGill University-Montreal Children's Hospital Research Institute, Quebec, Canada.
Wakamatsu
N
N
Akerman
B R
BR
Mules
E H
EH
Thomas
G H
GH
Gravel
R A
RA
D001483:Base Sequence; D017931:DNA Primers; D018076:DNA, Complementary; D005260:Female; D006579:Heterozygote; D054819:Hexosaminidase B; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D012497:Sandhoff Disease / Q000235:genetics*; D017384:Sequence Deletion; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D017931:DNA Primers; D018076:DNA, Complementary; D054819:Hexosaminidase B; D001619:beta-N-Acetylhexosaminidases