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Clinically focused exome sequencing identifies an homozygous mutation that confers DOCK8 deficiency.
Burbank, Allison J; Shah, Shaili N; Montgomery, Maureen; Peden, David; Tarrant, Teresa K; Weimer, Eric T.
Afiliação
  • Burbank AJ; Departments of Medicine, Division of Rheumatology, Allergy and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Shah SN; Department of Pediatrics, Division of Rheumatology, Allergy, and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Montgomery M; Departments of Medicine, Division of Rheumatology, Allergy and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Peden D; Department of Pediatrics, Division of Rheumatology, Allergy, and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Tarrant TK; Mclendon Clinical Laboratory, UNC Hospitals, Chapel Hill, NC, USA.
  • Weimer ET; Department of Pediatrics, Division of Rheumatology, Allergy, and Immunology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Pediatr Allergy Immunol ; 27(1): 96-8, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26235511
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Troca do Nucleotídeo Guanina / Exoma / Homozigoto / Síndromes de Imunodeficiência / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Troca do Nucleotídeo Guanina / Exoma / Homozigoto / Síndromes de Imunodeficiência / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article