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Article

Rag-1 mutations associated with B-cell-negative scid dissociate the nicking and transesterification steps of V(D)J recombination.

Molecular and cellular biology - 1 Jun 2001

Li W, Chang F C, Desiderio S

Abstract excerpt

Some patients with B-cell-negative severe combined immune deficiency (SCID) carry mutations in RAG-1 or RAG-2 that impair V(D)J recombination. Two recessive RAG-1 mutations responsible for B-cell-negative SCID, R621H and E719K, impair V(D)J recombination without affecting formation of single-site recombination signal sequence complexes, specific DNA contacts, or perturbation of DNA structure at the...

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Share to B-Lymphocytes
Share to Cations, Divalent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Rearrangement, B-Lymphocyte

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Source

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Identifiers

PMID: 11359901
DOI: 10.1128/MCB.21.12.3935-3946.2001
PMCID: PMC87056

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Rag-1 mutations associated with B-cell-negative scid dissociate the nicking and transesterification steps of V(D)J recombination.PMID 11359901Read ↗

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