Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
编码谷氨酰-脯氨酰-氨酰-tRNA合成酶的EPRS基因的双等位基因突变会导致髓鞘形成不足性脑白质营养不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.02.011
Mendes, Marisa I; Gutierrez Salazar, Mariana; Guerrero, Kether; Thiffault, Isabelle; Salomons, Gajja S; Gauquelin, Laurence; Tran, Luan T; Forget, Diane; Gauthier, Marie-Soleil; Waisfisz, Quinten; Smith, Desiree E C; Simons, Cas; van der Knaap, Marjo S; Marquardt, Iris; Lemes, Aida; Mierzewska, Hanna; Weschke, Bernhard; Koehler, Wolfgang; Coulombe, Benoit; Wolf, Nicole I; Bernard, Geneviève