A novel mutation of δ-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity

Author:

Akagi Reiko,Yasui Yumiko,Harper Pauline,Sassa Shigeru

Publisher

Wiley

Subject

Hematology

Reference26 articles.

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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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1. Inherited Porphyrias;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

2. Heme biosynthesis depends on previously unrecognized acquisition of iron-sulfur cofactors in human amino-levulinic acid dehydratase;Nature Communications;2020-12

3. Porphobilinogen synthase: An equilibrium of different assemblies in human health;Progress in Molecular Biology and Translational Science;2020

4. Heme biosynthesis and the porphyrias;Molecular Genetics and Metabolism;2019-11

5. The Porphyrias;2017

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