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A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen, Jasmin; Suter, Lukas; Wegmann, Franziska; Meienberg, Janine; Minder, Anna Elisabeth; Beer, Marc; Komminoth, Paul; Minder, Elisabeth I; Schneider-Yin, Xiaoye.
Afiliação
  • Barman-Aksözen J; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
  • Suter L; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
  • Wegmann F; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
  • Meienberg J; b Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases , Schlieren-Zurich , Switzerland.
  • Minder AE; c Division of Endocrinology, Department of Internal Medicine, Triemli Hospital , Zurich , Switzerland.
  • Beer M; d Institute of Pathology, Triemli Hospital , Zurich , Switzerland.
  • Komminoth P; d Institute of Pathology, Triemli Hospital , Zurich , Switzerland.
  • Minder EI; c Division of Endocrinology, Department of Internal Medicine, Triemli Hospital , Zurich , Switzerland.
  • Schneider-Yin X; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
Scand J Clin Lab Invest ; 79(5): 305-313, 2019 Sep.
Article em En | MEDLINE | ID: mdl-31154864
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Porfirias Hepáticas / Sequenciamento de Nucleotídeos em Larga Escala / Sintase do Porfobilinogênio Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Porfirias Hepáticas / Sequenciamento de Nucleotídeos em Larga Escala / Sintase do Porfobilinogênio Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article