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Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251.
Nat Commun. 2014.
PMID: 24504326
Free PMC article.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA.
Adams DR, et al.
Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13.
Mol Genet Metab. 2014.
PMID: 24863970
Free PMC article.
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