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An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Ferrer, Christina M; Alders, Marielle; Postma, Alex V; Park, Seonmi; Klein, Mark A; Cetinbas, Murat; Pajkrt, Eva; Glas, Astrid; van Koningsbruggen, Silvana; Christoffels, Vincent M; Mannens, Marcel M A M; Knegt, Lia; Etchegaray, Jean-Pierre; Sadreyev, Ruslan I; Denu, John M; Mostoslavsky, Gustavo; van Maarle, Merel C; Mostoslavsky, Raul.
Afiliación
  • Ferrer CM; The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Alders M; The Massachusetts General Hospital Center for Regenerative Medicine, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Postma AV; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • Park S; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • Klein MA; Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam NL-1105 AZ, the Netherlands.
  • Cetinbas M; The Center for Regenerative Medicine (CReM), Boston Medical Center, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
  • Pajkrt E; Department of Biomolecular Chemistry, University of Wisconsin, Madison, Wisconsin 53715, USA.
  • Glas A; The Wisconsin Institute for Discovery, University of Wisconsin, Madison, Wisconsin 53715, USA.
  • van Koningsbruggen S; Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
  • Christoffels VM; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Mannens MMAM; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Knegt L; Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam NL-1105 AZ, the Netherlands.
  • Etchegaray JP; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • Sadreyev RI; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • Denu JM; Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam NL-1105 AZ, the Netherlands.
  • Mostoslavsky G; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • van Maarle MC; Department of Clinical Genetics, Academic Medical Center, Amsterdam 1105 AZ, the Netherlands.
  • Mostoslavsky R; The Massachusetts General Hospital Cancer Center, Harvard Medical School, Boston, Massachusetts 02114, USA.
Genes Dev ; 32(5-6): 373-388, 2018 03 01.
Article en En | MEDLINE | ID: mdl-29555651
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sirtuinas / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sirtuinas / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2018 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos