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Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.
Doubková, Martina; Trizuljak, Jakub; Vrzalová, Zuzana; Hrazdirová, Anna; Blaháková, Ivona; Radová, Lenka; Pospísilová, Sárka; Doubek, Michael.
Afiliação
  • Doubková M; Department of Pulmonary Diseases and Tuberculosis, Masaryk University, Faculty of Medicine and University Hospital, Brno, Czech Republic.
  • Trizuljak J; Department of Internal Medicine, Hematology and Oncology, University Hospital and Faculty of Medicine, Jihlavská 20, 625 00, Brno, Czech Republic.
  • Vrzalová Z; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Hrazdirová A; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Blaháková I; Department of Pulmonary Diseases and Tuberculosis, Masaryk University, Faculty of Medicine and University Hospital, Brno, Czech Republic.
  • Radová L; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Pospísilová S; Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Doubek M; Department of Internal Medicine, Hematology and Oncology, University Hospital and Faculty of Medicine, Jihlavská 20, 625 00, Brno, Czech Republic.
BMC Pulm Med ; 19(1): 178, 2019 Oct 16.
Article em En | MEDLINE | ID: mdl-31619213

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose Pulmonar / Síndrome de Hermanski-Pudlak / Pulmão / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: BMC Pulm Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: República Tcheca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fibrose Pulmonar / Síndrome de Hermanski-Pudlak / Pulmão / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: BMC Pulm Med Ano de publicação: 2019 Tipo de documento: Article País de afiliação: República Tcheca