A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
Lam
C W
CW
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong.
Chan
K Y
KY
Tong
S F
SF
Chan
B Y
BY
Chan
Y T
YT
Chan
Y W
YW
D019943:Amino Acid Substitution / Q000235:genetics*; D017920:Antiporters; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D007930:Leucine / Q000235:genetics; D009004:Monosaccharide Transport Proteins; D020125:Mutation, Missense / Q000235:genetics*; D010770:Phosphotransferases / Q000235:genetics*; D011392:Proline / Q000235:genetics
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D011392:Proline; D010770:Phosphotransferases; D007930:Leucine