RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases

Eur J Hum Genet. 2010 Jun;18(6):737-8. doi: 10.1038/ejhg.2010.18. Epub 2010 Feb 24.
No abstract available

Publication types

  • Congress

MeSH terms

  • Congresses as Topic
  • DNA Mutational Analysis / methods
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Genetic Testing / methods*
  • Genetics, Medical
  • Humans
  • Models, Biological
  • RNA Splicing / genetics*