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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 coding regions of the delta-aminolevulinate synthase gene were amplified and sequenced from a 30-year-old Chinese male...

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Identifiers

PMID: 1570328
DOI: 10.1073/pnas.89.9.4028
PMCID: PMC525625

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