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A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemia.
Itakura, Takuji; Sasaki, Hirokazu; Hosoya, Tadashi; Yamaguchi, Taiki; Mimori, Erika; Saimon, Yukino; Iwai, Hideyuki; Umezawa, Natsuka; Kawata, Daisuke; Kimura, Naoki; Kurata, Morito; Shimizu, Masaki; Yasuda, Shinsuke.
Afiliación
  • Itakura T; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Sasaki H; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Hosoya T; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Yamaguchi T; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Mimori E; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Saimon Y; Department of Rheumatology, Faculty of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
  • Iwai H; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Umezawa N; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Kawata D; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Kimura N; Department of Lifetime Clinical Immunology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Kurata M; Department of Comprehensive Pathology, Tokyo Medical and Dental University Hospital, Tokyo, Japan.
  • Shimizu M; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
  • Yasuda S; Department of Rheumatology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Rheumatology (Oxford) ; 62(11): e319-e321, 2023 11 02.
Article en En | MEDLINE | ID: mdl-37094224
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación con Ganancia de Función / Hipergammaglobulinemia Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Rheumatology (Oxford) Asunto de la revista: REUMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación con Ganancia de Función / Hipergammaglobulinemia Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Rheumatology (Oxford) Asunto de la revista: REUMATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Japón