title: Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease.
authors.affiliation: Department of Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: H A
authors.initials: HA
authors.lastname: Ozkara
authors.forename: B R
authors.initials: BR
authors.lastname: Akerman
authors.forename: G
authors.initials: G
authors.lastname: Ciliv
authors.forename: M
authors.initials: M
authors.lastname: Topçu
authors.forename: Y
authors.initials: Y
authors.lastname: Renda
authors.forename: R A
authors.initials: RA
authors.lastname: Gravel
mesh_terms: 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*
chemical_list: D006147:Guanine; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases