Sequence analyses of presenilin mutations linked to familial Alzheimer’s disease

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Cell stress & chaperones (Print)

• Publication date

  2008-05-20

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s12192-008-0046-0PMID 18491041PMCID PMC2673935
• 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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  1997cited by this paper
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  1997cited by this paper
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• CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice.

  1994cited by this paper
• Genetic and phenotypic studies of hypomorphic lin-12 mutants in Caenorhabditis elegans.

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