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Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.
Kedar, Prabhakar; Dongerdiye, Rashmi; Chandrakala, Shanmukhaiah; Bargir, Umair Ahmed; Madkaikar, Manisha.
Afiliação
  • Kedar P; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India.
  • Dongerdiye R; Department of Haematogenetics, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India.
  • Chandrakala S; Department of Hematology, King Edward Memorial Hospital, Parel, Mumbai, India.
  • Bargir UA; Department of Pediatric Immunology and Leukocyte Biology, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India.
  • Madkaikar M; Department of Pediatric Immunology and Leukocyte Biology, ICMR- National Institute of Immunohaematology, Parel, Mumbai, India.
Hematology ; 27(1): 441-448, 2022 Dec.
Article em En | MEDLINE | ID: mdl-35413226
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transdução de Sinal / Hemólise / Anemia Hemolítica Autoimune Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / 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: Proteínas Adaptadoras de Transdução de Sinal / Hemólise / Anemia Hemolítica Autoimune Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article