Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Aoyama
Yoshiko
Y
Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Minato-ku, Tokyo, Japan.
Endo
Yoriko
Y
Ebara
Tetsu
T
Murase
Toshio
T
Shin
Yoon S
YS
Podskarbi
Teodor
T
Ozer
Isil
I
Demirkol
Mübeccel
M
Gökçay
Gülden
G
Okubo
Minoru
M
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D004044:Dietary Proteins / Q000008:administration & dosage; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics; D017422:Sequence Analysis, DNA
D004040:Dietary Carbohydrates; D004044:Dietary Proteins; D006004:Glycogen Debranching Enzyme System