Title : A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Pub. Date : 2020

PMID : 33281618






1 Functional Relationships(s)
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Compound Name
Protein Name
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1 A novel pathogenic ALAS2 missense mutation (c.1382T>A, p.Leu461His) is described. leu461his 5'-aminolevulinate synthase 2 Homo sapiens