The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.
Curtis R CoughlinMichael A SwansonKathryn KronquistCécile AcquavivaTim HutchinPilar Rodríguez-PomboMarja-Leena VäisänenElaine SpectorGeralyn Creadon-SwindellAna M Brás-GoldbergElisa RahikkalaJukka S MoilanenVincent MahieuGert MatthijsIrene Bravo-AlonsoCelia Pérez-CerdáMagdalena UgarteChristine Vianey-SabanGunter H ScharerJohan L K Van HovePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The 484 unique mutations now known in classic NKH provide a valuable overview for the development of genotype-based therapies.Genet Med 19 1, 104-111.
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