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
McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, ThomasVolume:
19
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/s12881-018-0559-z
Date:
December, 2018
File:
PDF, 2.20 MB
english, 2018