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Article

Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic‐nucleotide stretches

22 Nov 2007

Abstract excerpt

T-B-NK+ severe combined immunodeficiency (SCID) is caused by a defect in V(D)J recombination. A subset of these patients has a mutation in one of the non-homologous end joining (NHEJ) genes, most frequently the Artemis gene. Artemis is involved in opening of hairpin-sealed coding ends. The low levels of residual DH-JH junctions that could be amplified from patients' bone marrow precursor B cells showed high...

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Identifiers

PMID: 18034425
DOI: 10.1002/eji.200737624

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