Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene.

doi:10.1046/j.1365-2141.1998.00569.x

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Article

Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene.

British journal of haematology - 1 Feb 1998

Edgar A J, 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 C1622G and a closely linked polymorphism C1612A in exon 10 of the gene. Sequence analysis of the genomic DNA from...

Topics

5-Aminolevulinate Synthetase
Amino Acid Sequence
Anemia, Sideroblastic
Exons
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation

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