Your browser doesn't support javascript.
loading
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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-37763293
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Life (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Life (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Suiza