Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity-Reference-Cited by-同舟云学术

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

Published:2006-01 Issue:1 Volume:76 Page:33-41
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:Eur J Haematol

Author:

Furuyama Kazumichi,Harigae Hideo,Heller Tom,Hamel Ben C. J.,Minder Elisabeth I.,Shimizu Toru,Kuribara Tadao,Blijlevens Nicole,Shibahara Shigeki,Sassa Shigeru

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.2005.00541.x/fullpdf

Reference34 articles.

1. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

2. X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

3. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley

4. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

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