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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco, Kelly; St-Louis, Johanna L; Hovland, Henrikke N; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål R; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line M; Molven, Anders.
Afiliación
  • Velasco K; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • St-Louis JL; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Hovland HN; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Thompson N; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Ottesen Å; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Choi MH; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Pedersen L; Department of Pathology, Haukeland University Hospital, Bergen, Norway.
  • Njølstad PR; Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Arnesen T; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Fjeld K; Department of Pediatrics and Adolescent Medicine, Haukeland University Hospital, Bergen, Norway.
  • Aukrust I; Department of Biomedicine, University of Bergen, Bergen, Norway.
  • Myklebust LM; Department of Biological Sciences, University of Bergen, Bergen, Norway.
  • Molven A; Department of Surgery, Haukeland University Hospital, Bergen, Norway.
J Inherit Metab Dis ; 44(1): 240-252, 2021 01.
Article en En | MEDLINE | ID: mdl-32876354
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Hiperinsulinismo Congénito / 3-Hidroxiacil-CoA Deshidrogenasas Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Hiperinsulinismo Congénito / 3-Hidroxiacil-CoA Deshidrogenasas Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Estados Unidos