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

BACKGROUND: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in ot...

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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: McTiernan, Nina, Støve, Svein Isungset, Aukrust, Ingvild, Mårli, Marita Torrisen, Myklebust, Line M., Houge, Gunnar, Arnesen, Thomas
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5859388/
https://ncbi.nlm.nih.gov/pubmed/29558889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0559-z
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