Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
CMT2N 患者中高功能和低功能的 AARS 等位基因增加了临床和分子异质性
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddy290
Weterman, Marian A J; Kuo, Molly; Kenter, Susan B; Gordillo, Sara; Karjosukarso, Dyah W; Takase, Ryuichi; Bronk, Marieke; Oprescu, Stephanie; van Ruissen, Fred; Witteveen, Ron J W; Bienfait, Henriette M E; Breuning, Martijn; Verhamme, Camiel; Hou, Ya-Ming; de Visser, Marianne; Antonellis, Anthony; Baas, Frank