Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.

This publication has 30 references indexed in Scilit:

• Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
  Journal of Clinical Investigation, 1991
• Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle
  Science, 1991
• Mechanisms of Alternative Pre-mRNA Splicing
  Science, 1991
• Quantification analysis of 5′-splice signal sequences in mRNA precursors. Mutations in 5′-splice signal sequence of human β-globin gene and β-thalassemia
  Journal of Theoretical Biology, 1990
• ALTERNATIVE SPLICING IN THE CONTROL OF GENE EXPRESSION
  Annual Review of Genetics, 1989
• Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
  Science, 1988
• Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes
  Nature, 1983
• Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
  Biochemistry, 1979
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
  Analytical Biochemistry, 1976
• Characteristics of cell lines derived from human leukocytes transformed by different strains of epstein‐barr virus
  International Journal of Cancer, 1975