Sung-Hee Han Chang-Seok Ki Ji-Eun Lee Young-Jin Hong Byong-Kwan Son Kyung-Hee Lee Yon-Ho Choe Soo-Youn Lee Jong-Won Kim
10.3346/jkms.2005.20.3.499
J Korean Med Sci
2005 Jun;20(3):499-501.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/15953877/
Glycogen Storage Disease Type I / genetics Mutation, Missense Phosphotransferases / genetics
Glycogen Storage Disease Type I / genetics Mutation, Missense Phosphotransferases / genetics Case Reports Research Support, Non-U.S. Gov't Antiporters Base Sequence DNA / chemistry DNA / genetics DNA Mutational Analysis Glycogen Storage Disease Type I / enzymology Humans Korea Monosaccharide Transport Proteins Antiporters Monosaccharide Transport Proteins SLC37A4 protein, human glucose 6-phosphate(transporter) DNA Phosphotransferases
PMC2782211
15953877
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b
2005