Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.
Chopra
M
M
Jackson
R
R
Durkie
M
M
Beauchamp
N J
NJ
Kirk
E P
EP
D017920:Antiporters / Q000235:genetics; D002648:Child; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D009004:Monosaccharide Transport Proteins / Q000235:genetics; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; D022821:RNA Splice Sites; C503531:SLC37A4 protein, human