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First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Belosevic, Adrian; Minder, Anna-Elisabeth; Gueuning, Morgan; van Breemen, Franziska; Thun, Gian Andri; Mattle-Greminger, Maja P; Meyer, Stefan; Baumer, Alessandra; Minder, Elisabeth I; Schneider-Yin, Xiaoye; Barman-Aksözen, Jasmin.
Affiliation
  • Belosevic A; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
  • Minder AE; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
  • Gueuning M; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
  • van Breemen F; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
  • Thun GA; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
  • Mattle-Greminger MP; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
  • Meyer S; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
  • Baumer A; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
  • Minder EI; Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
  • Schneider-Yin X; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.
  • Barman-Aksözen J; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Life (Basel) ; 13(9)2023 Sep 10.
Article in En | MEDLINE | ID: mdl-37763293
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Life (Basel) Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Life (Basel) Year: 2023 Document type: Article Affiliation country: