Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.
Lam
Ching-Wan
CW
Yan
Matthew Shu-Ching
MS
Law
Tat-Yin
TY
Tong
Sui-Fan
SF
Orrico
A
A
Galli
L
L
Sorrentino
V
V
Benedetti
A
A
D017398:Alternative Splicing / Q000235:genetics; D017920:Antiporters / Q000235:genetics*; D001483:Base Sequence; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human