Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
Ozkara
H A
HA
Department of Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Akerman
B R
BR
Ciliv
G
G
Topçu
M
M
Renda
Y
Y
Gravel
R A
RA
D003241:Consanguinity; D005192:Family Health; D005260:Female; D006147:Guanine; D054818:Hexosaminidase A; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000453:epidemiology / Q000235:genetics*; D014421:Turkey / Q000453:epidemiology; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
D006147:Guanine; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases