Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia-Reference-Cited by-同舟云学术

Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia

Published:2009-04-24 Issue:1 Volume:58 Page:1-4
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:

Author:

Edgar A. J.,Losowsky M. S.,Noble J. S.,Wickramasinghe S. N.

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1997.tb01402.x/fullpdf

Reference23 articles.

1. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts;Cotter;J Clin Invest,1995

2. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations;Cotter;Genomics,1992

3. Enzymatic defect in ‘X-linked’ sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency;Cotter;Proc Natl Acad Sci USA,1992

4. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley;Cotter;Blood,1994

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