Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes

Objective: To investigate the clinical characteristics of 8 immunodeficiency cases caused by human recombination activating gene 1 (RAG1) mutations, and to explore the relationship among genotypes, clinical manifestations and immunophenotypes. Methods: Clinical data were collected and analyzed from...

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Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 3 vom: 02. März, Seite 186-191
Auteur principal: Yu, G (Auteur)
Autres auteurs: Wang, W J, Liu, D R, Tao, Z F, Hui, X Y, Hou, J, Sun, J Q, Wang, X C
Format: Article en ligne
Langue:Chinese
Publié: 2018
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:Journal Article Genes Immunophenotyping Severe combined immunodeficiency Homeodomain Proteins RAG-1 protein 128559-51-3