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Am J Hum Genet. 1990 Jan;46(1):107-11.

Erythroid 5-aminolevulinate synthase is located on the X chromosome.

Author information

1
Department of Biochemistry, University of Adelaide, Australia.

Abstract

The gene for erythroid 5-aminolevulinate synthase has been mapped to Xpter-Xq26 by Southern blot hybridization analysis of a mouse/human hybrid cell panel. In situ hybridization maps the gene to Xp21-Xq21, with the most likely location being on band Xp11.2. The mapping of the erythroid 5-amino-levulinate synthase gene to the X chromosome suggests that a defect in this gene may be the primary cause of X-linked sideroblastic anemia.

PMID:
2294742
PMCID:
PMC1683546
[Indexed for MEDLINE]
Free PMC Article

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