Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease
GALC基因的复合杂合致病变异会导致婴儿期发病的克拉伯病。
期刊:Transl Pediatr
影响因子:1.500
doi:10.21037/tp-21-403.
Xiaoli Zhang,Guohui Niu,Panpan Song,Lijun Wang,Rui Han,Manman Chu,Qiliang Guo,Zhao Xu,Lihong Yan,Tianming Jia