A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease

Hum Mol Genet. 1994 Jul;3(7):1191-2. doi: 10.1093/hmg/3.7.1191.
No abstract available

MeSH terms

  • Base Sequence
  • Consensus Sequence
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • RNA Splicing*
  • RNA, Messenger / genetics*
  • Sequence Deletion*
  • von Hippel-Lindau Disease / genetics*

Substances

  • RNA, Messenger