A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome.
Tsuda
M
M
Kitasawa
E
E
Ida
H
H
Eto
Y
Y
Owada
M
M
D001692:Biological Transport; D002675:Child, Preschool; D005198:Fanconi Syndrome / Q000175:diagnosis* / Q000235:genetics*; D015870:Gene Expression / Q000235:genetics*; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
D006003:Glycogen