Detalhe da pesquisa
1.
Targeting of LRRC59 to the Endoplasmic Reticulum and the Inner Nuclear Membrane.
Int J Mol Sci
; 20(2)2019 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30650545
2.
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat
; 37(8): 755-64, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094817
3.
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Eur J Hum Genet
; 26(9): 1294-1305, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29748569
4.
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
Sci Rep
; 5: 16022, 2015 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522270