Article
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 1 May 1992
Cotter P D, Baumann M, Bishop D F
Abstract excerpt
Recently, the human gene encoding erythroid-specific delta-aminolevulinate synthase was localized to the chromosomal region Xp21-Xq21, identifying this gene as the logical candidate for the enzymatic defect causing "X-linked" sideroblastic anemia. To investigate this hypothesis, the 11 exonic cod...
Topics
- 5-Aminolevulinate Synthetase
- Anemia, Sideroblastic
- Base Sequence
- Humans
- Hydrogen Bonding
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Protein Conformation
- Sequence Alignment
- X Chromosome