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...

Ausführliche Beschreibung

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 3 vom: 02. März, Seite 186-191
1. Verfasser: Yu, G (VerfasserIn)
Weitere Verfasser: Wang, W J, Liu, D R, Tao, Z F, Hui, X Y, Hou, J, Sun, J Q, Wang, X C
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2018
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Journal Article Genes Immunophenotyping Severe combined immunodeficiency Homeodomain Proteins RAG-1 protein 128559-51-3