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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Machado, Rajiv D; Welch, Carrie L; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D; Debeljak, Marusa; Ekstein, Josef; Fineman, Jeffrey R; Golden, William Christopher; Griffin, Emily L; Hadinnapola, Charaka; Harris, Michael A; Hirsch, Yoel; Hoover-Fong, Julie Elizabeth; Nogee, Lawrence; Romer, Lewis H; Vesel, Samo; Gräf, Stefan; Morrell, Nicholas W; Southgate, Laura; Chung, Wendy K.
Afiliação
  • Machado RD; Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK.
  • Welch CL; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
  • Haimel M; NIHR Bioresource - Rare Diseases, University of Cambridge, Cambridge, Cambridgeshire, UK.
  • Bleda M; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK.
  • Colglazier E; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK.
  • Coulson JD; Department of Nursing, University of California San Francisco, San Francisco, California, USA.
  • Debeljak M; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Ekstein J; Clinical Institute of Special Laboratory Diagnostics, University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.
  • Fineman JR; Faculty of Medicine, Institute of Cell Biology, University of Ljubljana, Ljubljana, Slovenia.
  • Golden WC; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA.
  • Griffin EL; Department of Pediatrics and Cardiovascular Research Institute, University of California San Francisco, San Francisco, California, USA.
  • Hadinnapola C; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Harris MA; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.
  • Hirsch Y; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, Cambridgeshire, UK.
  • Hoover-Fong JE; Vici Syndrome Foundation, Inc, Silver Spring, Maryland, USA.
  • Nogee L; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA.
  • Romer LH; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Vesel S; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Gräf S; Department of Anesthesiology and Critical Care Medicine, Cell Biology, Biomedical Engineering, and the Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Morrell NW; Department of Cardiology, University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.
  • Southgate L; Department of Paediatrics, Teaching Hospital Celje, Celje, Slovenia.
J Med Genet ; 59(9): 906-911, 2022 Sep.
Article em En | MEDLINE | ID: mdl-34493544
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertensão Arterial Pulmonar Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipertensão Arterial Pulmonar Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido