Associated Papers
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Strand J et al.
Frontiers in Immunology, 2020
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Al-Herz W et al.
Clinical Immunology (orlando, Fla.), 2018
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K et al.
The Journal of Allergy and Clinical Immunology, 2015
The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP et al.
Clinical Immunology (orlando, Fla.), 2013
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U et al.
Human Mutation, 2010
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