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1999 | 1 |
2003 | 1 |
2021 | 1 |
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Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
J Biol Chem. 1999 Feb 26;274(9):5532-6. doi: 10.1074/jbc.274.9.5532.
J Biol Chem. 1999.
PMID: 10026167
Free article.
The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate.
Pan CJ, Chen LY, Mansfield BC, Salani B, Varesio L, Chou JY.
Pan CJ, et al.
Hum Genet. 2003 Apr;112(4):430-3. doi: 10.1007/s00439-002-0903-3. Epub 2003 Jan 31.
Hum Genet. 2003.
PMID: 12560945
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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH.
Ng BG, et al.
Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7.
Am J Hum Genet. 2021.
PMID: 33964207
Free PMC article.
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