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Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel, Cécile; Mollin, Michelle; Beaumel, Sylvain; Brion, Jean Paul; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Callanan, Mary; Lefebvre, Christine; Salmon, Alexandra; Pagnier, Anne; Plantaz, Dominique; Bost-Bru, Cécile; Eitenschenck, Laurence; Durieu, Isabelle; Floret, Daniel; Galambrun, Claire; Chambost, Hervé; Michel, Gérard; Stephan, Jean-Louis; Hermine, Olivier; Blanche, Stéphane; Blot, Nathalie; Rubié, Hervé; Pouessel, Guillaume; Drillon-Haus, Stephanie; Conrad, Bernard; Posfay-Barbe, Klara M; Havlicekova, Zuzana; Voskresenky-Baricic, Tamara; Jadranka, Kelecic; Arriazu, Maria Cristina; Garcia, Luis Alberto; Sfaihi, Lamia; Mansour, Lamia Sfaihi Ben; Bordigoni, Pierre; Stasia, Marie José.
Afiliação
  • Martel C; Chronic Granulomatous Disease Diagnosis and Research Centre (CDiReC), Pôle Biologie, CHU de Grenoble, Grenoble, 38043, France.
J Clin Immunol ; 32(5): 942-58, 2012 Oct.
Article em En | MEDLINE | ID: mdl-22562447
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / NADPH Oxidases / Doença Granulomatosa Crônica Idioma: En Ano de publicação: 2012 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / NADPH Oxidases / Doença Granulomatosa Crônica Idioma: En Ano de publicação: 2012 Tipo de documento: Article