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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.
Støve, Svein Isungset; Blenski, Marina; Stray-Pedersen, Asbjørg; Wierenga, Klaas J; Jhangiani, Shalini N; Akdemir, Zeynep Coban; Crawford, David; McTiernan, Nina; Myklebust, Line M; Purcarin, Gabriela; McNall-Knapp, Rene; Wadley, Alexandrea; Belmont, John W; Kim, Jeffrey J; Lupski, James R; Arnesen, Thomas.
Affiliation
  • Støve SI; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Blenski M; Department of Surgery, Haukeland University Hospital, 5021, Bergen, Norway.
  • Stray-Pedersen A; Department of Biomedicine, University of Bergen, 5020, Bergen, Norway.
  • Wierenga KJ; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Jhangiani SN; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424, Oslo, Norway.
  • Akdemir ZC; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway.
  • Crawford D; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • McTiernan N; University of Oklahoma School of Medicine, Oklahoma City, OK, USA.
  • Myklebust LM; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Purcarin G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • McNall-Knapp R; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wadley A; Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Kim JJ; University of Oklahoma School of Medicine, Oklahoma City, OK, USA.
  • Lupski JR; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
  • Arnesen T; Department of Biological Sciences, University of Bergen, 5020, Bergen, Norway.
Eur J Hum Genet ; 26(9): 1294-1305, 2018 09.
Article de En | MEDLINE | ID: mdl-29748569
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Cardiomyopathie hypertrophique / Incapacités de développement / N-terminal acetyltransferase A / N-terminal acetyltransferase E / Déficience intellectuelle Type d'étude: Etiology_studies / Prognostic_studies Limites: Child, preschool / Humans / Infant / Male Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays d'affiliation: Norvège
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Cardiomyopathie hypertrophique / Incapacités de développement / N-terminal acetyltransferase A / N-terminal acetyltransferase E / Déficience intellectuelle Type d'étude: Etiology_studies / Prognostic_studies Limites: Child, preschool / Humans / Infant / Male Langue: En Journal: Eur J Hum Genet Sujet du journal: GENETICA MEDICA Année: 2018 Type de document: Article Pays d'affiliation: Norvège