Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Human Molecular Genetics

• Publication date

  2002-10-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/11.22.2709PMID 12374761
• 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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  1998cited by this paper
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  1998cited by this paper
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  1998cited 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
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  1994cited 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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  1988cited by this paper
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  1973cited by this paper

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