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RASA1 References

The web links shown below are existing online resources for RASA1 and associated Arteriovenous Malformation (AVM), Capillary Malformation (CM), and Parkes-Weber syndrome (PKWS). Links to several review journal articles are given, as well as genome and protein links.

Please contact us to suggest additional content for this page.

Databases

  • RASA1: The Human Gene Mutation Database
  • RASA1: MutDB

Gene and Protein Links

  • RASA1 cDNA: NC_000005.9
  • RASA1 mRNA: NM_002890.1
  • RASA1 protein: NP_002881
  • RASA1 at HPRD and Uniprot

Web Reviews

  • Entrez Gene: RASA1
  • OMIM for RASA1, Parkes-Weber syndrome, Capillary Malformation-arteriovenous Malformation
  • Genetics Home Reference for RASA1

Peer-Reviewed Literature

  • Revencu et al. Parkes Weber syndrome, vein of Galen aneurismal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation 2008. 29(7):959-65.
  • Hershkovitz et al. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. British Journal of Dermatology 2008. 158(5):1035-40.
  • Eerola et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. American Journal of Human Genetics 2003. 73(6):1240-9.
  • Brouillard and Vikkula. Genetic causes of vascular malformations. Human Molecular Genetics 2007. 16(2):140-9.
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    • RASA1 Medical Director
      Pinar Bayrak-Toydemir, MD, PhD, FACMG
      Assistant Professor (Clinical)
      Department of Pathology, University of Utah
      Associate Medical Director, Molecular Genetics
      (801) 583-2787, x3171
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      Whitney Wooderchak-Donahue, PhD
      Database Curator
      (801) 583-2787 x2911
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