A founder mutation in the Ashkenazi Jewish population affecting mRNA splicing of the CCM2 gene is associated with Cerebral Cavernous Malformations: Ashkenazi Jewish founder mutation in CCM

Benzer Materyaller

• Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis
  Yazar:: McDonald, David A., ve diğerleri
  Baskı/Yayın Bilgisi: (2014)
• How old is this mutation? - a study of three Ashkenazi Jewish founder mutations
  Yazar:: Greenwood, Celia MT, ve diğerleri
  Baskı/Yayın Bilgisi: (2010)
• Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
  Yazar:: Chang, Wendy, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)
• Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations
  Yazar:: Plummer, Nicholas W., ve diğerleri
  Baskı/Yayın Bilgisi: (2004)
• Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations
  Yazar:: Liquori, Christina L., ve diğerleri
  Baskı/Yayın Bilgisi: (2007)