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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Mosegaard, Signe; Bruun, Gitte Hoffmann; Flyvbjerg, Karen Freund; Bliksrud, Yngve Thomas; Gregersen, Niels; Dembic, Maja; Annexstad, Ellen; Tangeraas, Trine; Olsen, Rikke Katrine Jentoft; Andresen, Brage S.
Afiliação
  • Mosegaard S; Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark.
  • Bruun GH; Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
  • Flyvbjerg KF; Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
  • Bliksrud YT; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
  • Gregersen N; Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark.
  • Dembic M; Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark.
  • Annexstad E; Ostfold Hospital Trust, Women's and Children's Department, Norway.
  • Tangeraas T; Department of Pediatrics, Oslo University Hospital, Oslo, Norway.
  • Olsen RKJ; Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University and University Hospital, 8200 Aarhus N, Denmark.
  • Andresen BS; Department of Biochemistry and Molecular Biology, The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark. Electronic address: bragea@bmb.sdu.dk.
Mol Genet Metab ; 122(4): 182-188, 2017 12.
Article em En | MEDLINE | ID: mdl-29122468
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Riboflavina / Variação Genética / Íntrons / Éxons / Receptores Acoplados a Proteínas G / Deficiência Múltipla de Acil Coenzima A Desidrogenase Tipo de estudo: Etiology_studies / Observational_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Riboflavina / Variação Genética / Íntrons / Éxons / Receptores Acoplados a Proteínas G / Deficiência Múltipla de Acil Coenzima A Desidrogenase Tipo de estudo: Etiology_studies / Observational_studies Limite: Female / Humans / Newborn / Pregnancy Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Dinamarca