研究論文
A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy
-
Ouardia Belarbi 1, Hakim Si Ahmed 1, Smail Daoudi 1, Pierre Labauge 2, Carra Dallier Clarisse 2,
Schmitt Perrine 2, Sanchez Pauline 2, Séverine Drunate 3, Hélène Cavé3