A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.1999.01647.x/fullpdf
Reference26 articles.
1. Molecular studies of the gene defect of ALA dehydratase deficiency porphyria: a new point mutation identified in a second German patient;Akagi;Porphyrins,1992
2. δ-Aminolevulinate dehydratase in human erythroleukemia cells: an immunologically distinct enzyme;Chang;Blood,1985
3. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease;Chirgwin;Biochemistry,1979
4. δ-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency;Doss;Clinical Genetics,1986
5. X-ray structure of 5-aminolaevulinate dehydratase, a hybrid aldolase;Erskine;Nature Structural Biology,1997
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2. Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase;Nature Communications;2020-12
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