Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  Journal of Clinical Investigation

• Publication date

  2014-09-02

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1172/JCI76175PMID 25105368PMCID PMC4151202
• 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.

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  2007cited by this paper
• Perspectives on chemistry and therapeutic applications of Locked Nucleic Acid (LNA).

  2007cited by this paper
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  2006cited by this paper
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  2006cited by this paper
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  2006cited by this paper
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  2005cited by this paper
• Computational definition of sequence motifs governing constitutive exon splicing.

  2004cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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  2002cited by this paper
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  2002cited by this paper
• Hypogammaglobulinaemia: cumulative experience in 49 patients in a tertiary care institution.

  2002cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  1999cited by this paper
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  1998cited by this paper
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  1996cited by this paper
• X-linked agammaglobulinemia. A clinical and molecular analysis.

  1996cited by this paper
• Molecular and cellular aspects of X-linked agammaglobulinemia.

  1995cited by this paper
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  1995influential reference
• Defective B cell development and function in Btk-deficient mice.

  1995cited by this paper
• Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.

  1994cited by this paper
• Obstetric anesthesia: delivering quality care.

  1993cited by this paper
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• Primary hypogammaglobulinaemia: a survey of clinical manifestations and complications.

  1993cited by this paper
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  1993cited by this paper
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  1993cited by this paper
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• Uncharged stereoregular nucleic acid analogs: 2. Morpholino nucleoside oligomers with carbamate internucleoside linkages.

  1989cited by this paper
• Chronic enteroviral meningoencephalitis in agammaglobulinemic patients.

  1987cited by this paper
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  1985cited by this paper

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