Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation-MedSci.cn - 梅斯（MedSci）

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation

Maalej, M; Sfaihi, L; Ammar, M; Frikha, F; Kharrat, M; Alila-Fersi, O; Mkaouar-Rebai, E; Tlili, A; Kammoun, T; Fakhfakh, F

Maalej, M (通讯作者)，Univ Sfax, Fac Sci Sfax, Mol Genet & Funct Lab, Sfax, Tunisia.

NEUROGENETICS, 2022; 23 (4): 257

Abstract

Progressive encephalopathy with brain edema and/or leukoencephalopathy, PEBEL1, is a severe neurometabolic disorder characterized by rapidly progressi......

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