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A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi, Bianca; Rascon, Jelena; Chiang, Samuel C C; Burnyte, Birute; Löfstedt, Alexandra; Fasth, Anders; Heizmann, Miriam; Juozapaite, Sandra; Kiudeliene, Rosita; Kvedaraite, Egle; Miseviciene, Valdone; Muleviciene, Audrone; Müller, Martha-Lena; Nordenskjöld, Magnus; Matuzeviciene, Reda; Samaitiene, Ruta; Speckmann, Carsten; Stankeviciene, Sigita; Zekas, Vytautas; Voss, Matthias; Ehl, Stephan; Vaiciene-Magistris, Nerija; Henter, Jan-Inge; Meeths, Marie; Bryceson, Yenan T.
Afiliação
  • Tesi B; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska Univ
  • Rascon J; Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Electronic address: jelena.rascon@vuvl.lt.
  • Chiang SCC; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
  • Burnyte B; Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Löfstedt A; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska Univ
  • Fasth A; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
  • Heizmann M; Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.
  • Juozapaite S; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Kiudeliene R; Lithuanian University of Health Sciences (LUHS), Center of Pediatric Oncology and Hematology at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
  • Kvedaraite E; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
  • Miseviciene V; LUHS, Center of Chronic Respiratory Diseases in Children at Pediatric Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
  • Muleviciene A; Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Müller ML; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
  • Nordenskjöld M; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
  • Matuzeviciene R; Department of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania; Centre of Laboratory Medicine, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
  • Samaitiene R; Faculty of Medicine, Vilnius University, Vilnius, Lithuania; LUHS, Neurology Department and Hospital of LUHS Kauno Klinikos, Kaunas, Lithuania.
  • Speckmann C; Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Stankeviciene S; Center for Pediatric Oncology and Hematology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Klinikos, Vilnius, Lithuania.
  • Zekas V; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Voss M; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden.
  • Ehl S; Center for Chronic Immunodeficiency and Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Vaiciene-Magistris N; Child Neurology Department at Children's Hospital, Affiliate of Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
  • Henter JI; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
  • Meeths M; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska Univ
  • Bryceson YT; Center for Hematology and Regenerative Medicine (HERM), Department of Medicine, Huddinge, Karolinska Institutet, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway.
J Allergy Clin Immunol ; 142(1): 317-321.e8, 2018 07.
Article em En | MEDLINE | ID: mdl-29522846
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piebaldismo / Linfo-Histiocitose Hemofagocítica / Proteínas rab27 de Ligação ao GTP / Síndromes de Imunodeficiência Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piebaldismo / Linfo-Histiocitose Hemofagocítica / Proteínas rab27 de Ligação ao GTP / Síndromes de Imunodeficiência Tipo de estudo: Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article