Corrigendum: X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

Vijay G. Sankaran, Jacob C. Ulirsch, Vassili Tchaikovskii, Leif S. Ludwig, Aoi Wakabayashi, Senkottuvelan Kadirvel, R. Coleman Lindsley, Rafael Bejar, Jiahai Shi, Scott B. Lovitch, David F. Bishop, David P. Steensma

Research output: Journal Publications and ReviewsErratum

3 Citations (Scopus)

Abstract

We determined that this mutation (Y365H) impairs binding of the essential cofactor pyridoxal 5'-phosphate to ALAS2, resulting in destabilization of the enzyme and consequent loss of function.  © 2020 American Society for Clinical Investigation. All rights reserved.
Original languageEnglish
Pages (from-to)552
JournalJournal of Clinical Investigation
Volume130
Issue number1
DOIs
Publication statusPublished - 2 Jan 2020
Externally publishedYes

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