Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Blood

• Publication date

  2003-02-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1182/BLOOD-2002-01-0187PMID 12406895
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Immunoglobulin

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• Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

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  2000cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1996cited by this paper
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  1996cited by this paper
• Flow cytometric detection of intracellular antigens for immunophenotyping of normal and malignant leukocytes.

  1996cited by this paper
• Expression and V(D)J recombination activity of mutated RAG-1 proteins.

  1993cited by this paper
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  2015cites this paper
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  2014cites this paper
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  2013influential citation
• The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

  2013cites this paper
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  2013cites this paper
• Aberrant V(D)J Recombination: Misrepair of DNA Breaks and Implications For Lymphomagenesis.

  2013cites this paper
• Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.

  2013cites this paper
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