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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

BACKGROUND: N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germlin...

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Detalles Bibliográficos
Autores principales:	Ree, Rasmus, Geithus, Anni Sofie, Tørring, Pernille Mathiesen, Sørensen, Kristina Pilekær, Damkjær, Mads, Lynch, Sally Ann, Arnesen, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554967/ https://www.ncbi.nlm.nih.gov/pubmed/31174490 http://dx.doi.org/10.1186/s12881-019-0803-1

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