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Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16.
Bravo García-Morato, María; Nevado, Julián; González-Granado, Luis Ignacio; Sastre Urgelles, Ana; Rodríguez Pena, Rebeca; Ferreira Cerdán, Antonio.
Afiliação
  • Bravo García-Morato M; Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain. Electronic address: maria.bravo@salud.madrid.org.
  • Nevado J; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Madrid, Spain; CIBERER, Centre for Biomedical Investigation on Rare Diseases, Madrid, Spain.
  • González-Granado LI; Immunodeficiencies Unit, Department of Pediatrics, 12 Octubre Institute of Biomedical Research (i+12), Madrid, Spain.
  • Sastre Urgelles A; Department of Pediatric Hematology/Oncology, La Paz University Hospital, Madrid, Spain.
  • Rodríguez Pena R; Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
  • Ferreira Cerdán A; Department of Immunology, La Paz University Hospital, Madrid, Spain; Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain.
J Allergy Clin Immunol Pract ; 5(4): 1146-1148, 2017.
Article em En | MEDLINE | ID: mdl-28341171

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 16 / Filho de Pais com Deficiência / NADPH Oxidases / Doença Granulomatosa Crônica / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 16 / Filho de Pais com Deficiência / NADPH Oxidases / Doença Granulomatosa Crônica / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article