Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

This publication has 12 references indexed in Scilit:

• POINT MUTATIONS IN THE UROPORPHYRINOGEN-III SYNTHASE GENE IN CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS-DISEASE)
  1990
• Purification and properties of uroporphyrinogen III synthase (co-synthase) from an overproducing recombinant strain of Escherichia coli K-12
  Biochemical Journal, 1989
• A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria
  Nucleic Acids Research, 1989
• Tissue-specific splicing mutation in acute intermittent porphyria.
  Proceedings of the National Academy of Sciences, 1989
• Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
  Proceedings of the National Academy of Sciences, 1988
• Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
  Science, 1988
• Purification and properties of uroporphyrinogen III synthase from human erythrocytes.
  Journal of Biological Chemistry, 1987
• SPLICING OF MESSENGER RNA PRECURSORS
  Annual Review of Biochemistry, 1986
• Adenosine deaminase messenger RNAs in lymphoblast cell lines derived from leukemic patients and patients with hereditary adenosine deaminase deficiency.
  Journal of Clinical Investigation, 1983
• CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHERS DISEASE) - ENZYMATIC STUDIES ON 2 CASES OF LATE ONSET
  1981