Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

Mousallem, Talal; Urban, Thomas J; McSweeney, K Melodi; Kleinstein, Sarah E; Zhu, Mingfu; Adeli, Mehdi; Parrott, Roberta E; Roberts, Joseph L; Krueger, Brian; Buckley, Rebecca H; Goldstein, David B

Mousallem, Talal; Urban, Thomas J; McSweeney, K Melodi; Kleinstein, Sarah E; Zhu, Mingfu; Adeli, Mehdi; Parrott, Roberta E; Roberts, Joseph L; Krueger, Brian; Buckley, Rebecca H; Goldstein, David B.

Afiliação

Mousallem T; Departments of Internal Medicine and Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC; Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: tmousall@wakehealth.edu.
Urban TJ; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC.
McSweeney KM; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
Kleinstein SE; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
Zhu M; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC.
Adeli M; Hamad Medical Corporation, Doha, Qatar.
Parrott RE; Department of Pediatrics, Duke University Medical Center, Durham, NC.
Roberts JL; Department of Pediatrics, Duke University Medical Center, Durham, NC.
Krueger B; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
Buckley RH; Department of Pediatrics, Duke University Medical Center, Durham, NC; Department of Immunology, Duke University School of Medicine, Durham, NC. Electronic address: buckl003@mc.duke.edu.
Goldstein DB; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.

J Allergy Clin Immunol ; 136(2): 476-9.e6, 2015 Aug.

Article em En | MEDLINE | ID: mdl-25981738

Assuntos

Genoma Humano; Síndromes de Imunodeficiência/genética; Mutação; NADPH Oxidases/genética; Proteínas Nucleares/genética; Processamento Alternativo; Linfócitos B/imunologia; Linfócitos B/patologia; Sequência de Bases; Criança; Proteínas de Ligação a DNA; Endonucleases; Éxons; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Imunoglobulina A/genética; Imunoglobulina G/genética; Síndromes de Imunodeficiência/diagnóstico; Síndromes de Imunodeficiência/imunologia; Síndromes de Imunodeficiência/patologia; Células Matadoras Naturais/imunologia; Células Matadoras Naturais/patologia; Contagem de Linfócitos; Masculino; Dados de Sequência Molecular; NADPH Oxidases/imunologia; Proteínas Nucleares/imunologia; Linfócitos T/imunologia; Linfócitos T/patologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Genoma Humano / NADPH Oxidases / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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