Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

No abstract is available for this paper.

• Publication year

  2015

• Venue

  Journal of molecular medicine

• Publication date

  2015-02-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00109-015-1261-7PMID 25686753
• 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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  2009influential reference
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  2007influential reference
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  2005influential reference
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  2004cited by this paper
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  1990influential reference
• Actin-binding and dimerization domains of HeLa cell filamin.

  1988cited by this paper
• Actin-binding protein promotes the bipolar and perpendicular branching of actin filaments

  1980cited by this paper

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