NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report

por McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, Thomas
Publicado 2018