Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 - Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; et al. (Human molecular genetics, 2019)
Keywords: Adolescent; Adult; Alleles; Biomarkers; Child; Child, Preschool; Computational Biology - methods; Enzyme Activation; Enzyme Stability; Facies; Female; Genetic Association Studies; Genetic Loci; Genetic Predisposition to Disease; Genetic Testing; Genetic Variation; Genotype; Humans; Infant; Male; Models, Molecular; Mutation; N-Terminal Acetyltransferase A - chemistry; N-Terminal Acetyltransferase A - genetics; N-Terminal Acetyltransferase A - metabolism; N-Terminal Acetyltransferase E - chemistry; N-Terminal Acetyltransferase E - genetics; N-Terminal Acetyltransferase E - metabolism; Phenotype; Protein Conformation; Recombinant Proteins; Structure-Activity Relationship; Young Adult