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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz, Eduardo; Van Den Rym, Ana; García-Solis, Blanca; Ochoa Grullón, Juliana; Guevara-Hoyer, Kissy; Fernández-Arquero, Miguel; Galán Dávila, Lucía; Matías-Guiú, Jorge; Sánchez-Ramón, Silvia; Pérez de Diego, Rebeca.
Afiliação
  • de la Fuente-Munoz E; Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
  • Van Den Rym A; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
  • García-Solis B; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
  • Ochoa Grullón J; Interdepartmental Group of Immunodeficiencies, Madrid, Spain.
  • Guevara-Hoyer K; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
  • Fernández-Arquero M; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain.
  • Galán Dávila L; Interdepartmental Group of Immunodeficiencies, Madrid, Spain.
  • Matías-Guiú J; Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
  • Sánchez-Ramón S; Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
  • Pérez de Diego R; Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
Front Immunol ; 13: 917601, 2022.
Article em En | MEDLINE | ID: mdl-35812399
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Dislexia / Ictiose Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Dislexia / Ictiose Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article