Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2

por Leonardis, Lea, Skrjanec Pusenjak, Marusa, Maver, Ales, Jaklic, Helena, Ozura Brecko, Ana, Koritnik, Blaz, Peterlin, Borut, Writzl, Karin
Publicado 2022