Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing

Genomics. 1994 May 1;21(1):291-3. doi: 10.1006/geno.1994.1265.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • B-Lymphocytes
  • Base Sequence
  • Cell Line, Transformed
  • DNA Mutational Analysis
  • Exons
  • Genes
  • Herpesvirus 4, Human
  • Humans
  • Molecular Sequence Data
  • Point Mutation*
  • RNA Processing, Post-Transcriptional / genetics*
  • RNA Splicing
  • RNA, Messenger / genetics*
  • RNA, Messenger / metabolism
  • Receptors, Interleukin-2 / chemistry
  • Receptors, Interleukin-2 / genetics*
  • Severe Combined Immunodeficiency / classification
  • Severe Combined Immunodeficiency / genetics*
  • Transcription, Genetic

Substances

  • RNA, Messenger
  • Receptors, Interleukin-2