Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation

Clin Genet. 2009 May;75(5):494-7. doi: 10.1111/j.1399-0004.2009.01154.x.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Family
  • Female
  • Hemangioma, Cavernous, Central Nervous System / genetics*
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • RNA Splicing / genetics*

Substances

  • CCM2 protein, human
  • Carrier Proteins