Articles with "related l1340p" as a keyword



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Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin

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Published in 2022 at "Life"

DOI: 10.3390/life13010151

Abstract: Previously, we reported a new missense mutation in the ANK1 gene correlated with the HS phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin… read more here.

Keywords: related l1340p; spherocytosis related; domain; ankyrin ... See more keywords