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Open Access
Peer-reviewed
Research Article
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
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Kristina Lagerstedt-Robinson,
Roles Conceptualization, Data curation, Formal analysis, Methodology, Writing – original draft
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
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Izabella Baranowska Körberg,
Roles Formal analysis, Writing – original draft
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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Stefanos Tsiaprazis,
Roles Data curation, Writing – review & editing
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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Erik Björck,
Roles Data curation, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
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Emma Tham,
Roles Data curation, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
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Anna Poluha,
Roles Data curation, Writing – review & editing
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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Maritta Hellström Pigg,
Roles Data curation, Writing – review & editing
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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Ylva Paulsson-Karlsson,
Roles Data curation, Writing – review & editing
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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Magnus Nordenskjöld,
Roles Data curation, Writing – review & editing
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
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Maria Johansson-Soller,
Roles Data curation, Formal analysis, Writing – original draft
Affiliations Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden, Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
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Christos Aravidis
Roles Conceptualization, Data curation, Formal analysis, Supervision, Writing – original draft, Writing – review & editing
* E-mail: christos.aravidis@igp.uu.se
Affiliations Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden, Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
- Kristina Lagerstedt-Robinson,
- Izabella Baranowska Körberg,
- Stefanos Tsiaprazis,
- Erik Björck,
- Emma Tham,
- Anna Poluha,
- Maritta Hellström Pigg,
- Ylva Paulsson-Karlsson,
- Magnus Nordenskjöld,
- Maria Johansson-Soller
- Published: February 17, 2022
- https://doi.org/10.1371/journal.pone.0264056