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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.
Hum Mutat. 2016.
PMID: 27094817
Free PMC article.
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
Casey JP, Støve SI, McGorrian C, Galvin J, Blenski M, Dunne A, Ennis S, Brett F, King MD, Arnesen T, Lynch SA.
Casey JP, et al. Among authors: blenski m.
Sci Rep. 2015 Nov 2;5:16022. doi: 10.1038/srep16022.
Sci Rep. 2015.
PMID: 26522270
Free PMC article.
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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve SI, Blenski M, Stray-Pedersen A, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T.
Støve SI, et al. Among authors: blenski m.
Eur J Hum Genet. 2018 Sep;26(9):1294-1305. doi: 10.1038/s41431-018-0136-0. Epub 2018 May 10.
Eur J Hum Genet. 2018.
PMID: 29748569
Free PMC article.
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Targeting of LRRC59 to the Endoplasmic Reticulum and the Inner Nuclear Membrane.
Blenski M, Kehlenbach RH.
Blenski M, et al.
Int J Mol Sci. 2019 Jan 15;20(2):334. doi: 10.3390/ijms20020334.
Int J Mol Sci. 2019.
PMID: 30650545
Free PMC article.
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