article_metadata: 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
article_metadata: 10.3346/jkms.2005.20.3.499
article_metadata: J Korean Med Sci
article_metadata: 2005 Jun;20(3):499-501.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/15953877/
article_metadata: Glycogen Storage Disease Type I / genetics Mutation, Missense Phosphotransferases / genetics
article_metadata: 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
article_metadata: PMC2782211
article_metadata: 15953877
article_metadata: A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b
article_metadata: 2005