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Article

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

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Mar 2018

Yu G, Wang W J, Liu D R, Tao Z F, Hui X Y, Hou J, Sun J Q, Wang X C

Abstract excerpt

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 patients with RAG1 mutations who visited the Department of Clinical Immunology, Children's Hospital of Fudan...

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Source

Identifiers

PMID: 29518828
DOI: 10.3760/cma.j.issn.0578-1310.2018.03.007

Genes

RAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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