Open AccessType 6 hypomyelinating leukodystrophy caused by a de novo mutation in the tubulin beta-4A gene
Author(s) -
И. Ю. Ожегова,
А. Ю. Асанов,
О Н Воскресенская,
Д. С. Ражева,
Olga B. Kondakova,
Е. А. Николаева
Publication year - 2020
Publication title -
rossijskij vestnik perinatologii i pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 4
eISSN - 2500-2228
pISSN - 1027-4065
DOI - 10.21508/1027-4065-2020-65-4-128-133
Subject(s) - leukodystrophy , biology , mutation , microtubule , gene mutation , genetics , gene , neuroscience , pathology , disease , medicine