PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor.

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Experimental Cell Research

• Publication date

  2004-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/J.YEXCR.2004.07.029PMID 15474994
• 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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  1999cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1998cited by this paper
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  1996cited by this paper
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  1996cited by this paper
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  1994cited by this paper
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  1993cited by this paper
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  1992cited by this paper
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  1991cited by this paper
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  1991cited by this paper
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  1990cited by this paper
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  1990cited by this paper
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  1984cited by this paper
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  1983cited by this paper
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  1973cited by this paper

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  2006cites this paper
• Retinitis pigmentosa.

  2006cites this paper
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  2005cites this paper
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  2005cites this paper
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  2005cites this paper
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  year unknowncites this paper