A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

This publication has 14 references indexed in Scilit:

• Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.
  Journal of Biological Chemistry, 1992
• Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
  Proceedings of the National Academy of Sciences, 1992
• Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
  Genomics, 1990
• Two different genes encode δ-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes
  Nucleic Acids Research, 1990
• Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support
  Nucleic Acids Research, 1989
• Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues
  Gene, 1985
• IRON OVERLOAD IN MILD SIDEROBLASTIC ANAEMIAS
  The Lancet, 1983
• Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.
  Proceedings of the National Academy of Sciences, 1975
• Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia.
  1973
• Hereditary Iron-Loading Anemia with Secondary Hemochromatosis
  Annals of Internal Medicine, 1961