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A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.
Khan, Taj Ali; Kalsoom, Kalsoom; Iqbal, Asif; Asif, Huma; Rahman, Hazir; Farooq, Syed Omar; Naveed, Hassan; Nasir, Umar; Amin, Muhammad Usman; Hussain, Mubashir; Tipu, Hamid Nawaz; Florea, Andrei.
Afiliação
  • Khan TA; Department of Microbiology, Kohat University of Science and Technology, Kohat, Pakistan. Electronic address: microbiologist63@yahoo.com.
  • Kalsoom K; Department of Food Science & Technology, University of Agriculture, Peshawar, Pakistan.
  • Iqbal A; Laboratory of Biochemistry and Biophysics, Butantan Institute, Sao Paulo, Brazil.
  • Asif H; Laboratory of Biochemistry and Biophysics, Butantan Institute, Sao Paulo, Brazil.
  • Rahman H; Department of Microbiology, Kohat University of Science and Technology, Kohat, Pakistan.
  • Farooq SO; Khyber Medical University, Institute of Medical Sciences, Kohat, Pakistan.
  • Naveed H; Department of Microbiology, Kohat University of Science and Technology, Kohat, Pakistan.
  • Nasir U; Khyber Medical University, Institute of Medical Sciences, Kohat, Pakistan.
  • Amin MU; Khyber Medical University, Institute of Medical Sciences, Kohat, Pakistan.
  • Hussain M; Department of Microbiology, Kohat University of Science and Technology, Kohat, Pakistan.
  • Tipu HN; Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
  • Florea A; The Department of Chemistry, University of Oxford, Oxford, United Kingdom.
Microb Pathog ; 100: 163-169, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27666509
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Doenças Transmissíveis / NADPH Oxidases / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Doença Granulomatosa Crônica Limite: Humans / Male Idioma: En Revista: Microb Pathog Assunto da revista: DOENCAS TRANSMISSIVEIS / MICROBIOLOGIA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glicoproteínas de Membrana / Doenças Transmissíveis / NADPH Oxidases / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Doença Granulomatosa Crônica Limite: Humans / Male Idioma: En Revista: Microb Pathog Assunto da revista: DOENCAS TRANSMISSIVEIS / MICROBIOLOGIA Ano de publicação: 2016 Tipo de documento: Article