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Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.
Shiraishi, Akira; Uygun, Vedat; Sharfe, Nigel; Beldar, Serap; Sun, Mark G F; Dadi, Harjit; Vong, Linda; Maxson, Michelle; Karaca, Neslihan E; Mevlitoglu, Süleyman; Grinstein, Sergio; Artan, Reha; Merico, Daniele; Roifman, Chaim M.
Afiliación
  • Shiraishi A; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
  • Uygun V; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Sharfe N; Pediatric Bone Marrow Transplantation Unit, Istinye University Faculty of Medicine, Medical Park Antalya Hospital, Antalya, Turkey.
  • Beldar S; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
  • Sun MGF; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.
  • Dadi H; Structural Genomics Consortium, University of Toronto, Toronto, ON, Canada.
  • Vong L; Oracle Therapeutics (Canada) Inc, Toronto, ON, Canada.
  • Maxson M; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
  • Karaca NE; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.
  • Mevlitoglu S; Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
  • Grinstein S; Canadian Centre for Primary Immunodeficiency and Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, ON, Canada.
  • Artan R; Program in Cell Biology, Peter Gilgan Centre for Research and Learning, Hospital for Sick Children, Toronto, ON, Canada.
  • Merico D; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
  • Roifman CM; Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Blood ; 141(26): 3226-3230, 2023 06 29.
Article en En | MEDLINE | ID: mdl-36745868
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ácido Fólico Límite: Humans Idioma: En Revista: Blood Año: 2023 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ácido Fólico Límite: Humans Idioma: En Revista: Blood Año: 2023 Tipo del documento: Article País de afiliación: Canadá