Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
MAL基因的错义突变会导致一种罕见的脑白质营养不良，类似于佩利措伊斯-梅尔茨巴赫病。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-022-01050-9
Elpidorou, Marilena; Poulter, James A; Szymanska, Katarzyna; Baron, Wia; Junger, Katrin; Boldt, Karsten; Ueffing, Marius; Green, Lydia; Livingston, John H; Sheridan, Eammon G; Johnson, Colin A
