Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

Human Mutation

Volumn 37, Issue 8, 2016, Pages 755-764

  Saunier, Chloé ^a   Støve, Svein Isungset ^b,c   Popp, Bernt ^d   Gérard, Bénédicte ^e   Blenski, Marina ^b   AhMew, Nicholas ^f   de Bie, Charlotte ^g   Goldenberg, Paula ^h   Isidor, Bertrand ^i,j   Keren, Boris ^k,l   Leheup, Bruno ^m   Lampert, Laetitia ^m   Mignot, Cyril ⁿ   Tezcan, Kamer ^o   Mancini, Grazia M S ^p   Nava, Caroline ^k,l   Wasserstein, Melissa ^q   Bruel, Ange Line ^r   Thevenon, Julien ^a,r   Masurel, Alice ^a,r   Duffourd, Yannis ^r   Kuentz, Paul ^r   Huet, Frédéric ^a,r   Rivière, Jean Baptiste ^r,s   van Slegtenhorst, Marjon ^p   Faivre, Laurence ^a,r   Piton, Amélie ^e   Reis, André ^d   Arnesen, Thomas ^b,c   Thauvin Robinet, Christel ^a,r   Zweier, Christiane ^d   more..

^a Medical University of Dijon   (France)

^b UNIVERSITY OF BERGEN   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ NANTES UNIVERSITY HOSPITAL   (France)

^j INSERM   (France)

^k PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^l CNRS   (France)

^m CHU NANCY BRABOIS   (France)

ⁿ ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^o KAISER PERMANENTE   (United States)

^p ERASMUS MEDICAL CENTER   (Netherlands)

^q MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^r UNIVERSITÉ DE BOURGOGNE   (France)

^s DIJON UNIVERSITY HOSPITAL   (France)

more..

Author keywords

intellectual disability; N terminal acetylation; NAA10; X linked

Indexed keywords

ARGININE; CYSTEINE; LEUCINE; PEPTIDE ALPHA N ACETYLTRANSFERASE; PHENYLALANINE;

ACETYLATION; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ENZYMATIC ASSAY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GROWTH DISORDER; HEART DISEASE; HUMAN; HUMAN CELL; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NAA10 GENE; PEPTIDE ALPHA N ACETYLTRANSFERASE DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; X CHROMOSOME INACTIVATION;

EID: 84978035610     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23001     Document Type: Article

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