A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome.
Matsuura
T
T
Tamura
T
T
Chinen
Y
Y
Ohta
T
T
D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005690:Galactose / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D051273:Glucose Transporter Type 2; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D007223:Infant; D007564:Japan; D007668:Kidney / Q000378:metabolism; D008099:Liver / Q000378:metabolism; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation
D051273:Glucose Transporter Type 2; D009004:Monosaccharide Transport Proteins; D006003:Glycogen; D005947:Glucose; D005690:Galactose