Article
X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.
European journal of haematology - 1 Jul 1998
Edgar A J, Vidyatilake H M, Wickramasinghe S N
Abstract excerpt
DNA sequencing of the coding region of the erythroid 5-aminolaevulinate synthase (ALAS2) cDNA from a male with pyridoxine-responsive sideroblastic anaemia revealed a missense mutation, a G561T transversion in exon 5 of the gene. Previously, the mutation G561A has been shown to be responsible for...
Topics
- 5-Aminolevulinate Synthetase
- Adult
- Aged
- Amino Acid Substitution
- Anemia, Sideroblastic
- Arginine
- Base Sequence
- Female
- Humans
- Leucine
- Male
- Middle Aged
- Mutation
- Pedigree
- Point Mutation
- Sequence Analysis, DNA
- X Chromosome