Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
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Crystal Structure of the Golgi-Associated Human Nα-Acetyltransferase 60 Reveals the Molecular Determinants for Substrate-Specific AcetylationProteomic and genomic characterization of a yeast model for Ogden syndrome.Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.Structural basis of HypK regulating N-terminal acetylation by the NatA complex.Exome Pool-Seq in neurodevelopmental disorders.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Molecular determinants of the N-terminal acetyltransferase Naa60 anchoring to the Golgi membrane.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.
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P2860
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 April 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
@en
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
@en
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
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P2093
P2860
P50
P356
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency
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P2093
Alice Masurel
Ange-Line Bruel
Bernt Popp
Bertrand Isidor
Boris Keren
Bruno Leheup
Bénédicte Gérard
Caroline Nava
Charlotte de Bie
Chloé Saunier
P2860
P304
P356
10.1002/HUMU.23001
P577
2016-05-04T00:00:00Z