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A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.
Peifer-Weiß, Leon; Kurban, Mazen; David, Céline; Lubeck, Melissa; Kondadi, Arun Kumar; Nemer, Georges; Reichert, Andreas S; Anand, Ruchika.
Afiliação
  • Peifer-Weiß L; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Kurban M; Department Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
  • David C; Department of Dermatology, American University of Beirut, Beirut, Lebanon.
  • Lubeck M; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Kondadi AK; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Nemer G; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Reichert AS; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
  • Anand R; Institute of Biochemistry and Molecular Biology I, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Clin Genet ; 104(6): 659-668, 2023 12.
Article em En | MEDLINE | ID: mdl-37649161
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Progéria / Doenças Mitocondriais Tipo de estudo: Etiology_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Progéria / Doenças Mitocondriais Tipo de estudo: Etiology_studies Limite: Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article