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

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

Previously, we reported a new missense mutation in the <i>ANK1</i> gene that correlated with the hereditary spherocytosis phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin ZZUD domain important for a...

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Bibliographic Details
Main Authors: Beata Machnicka, Aleksander Czogalla, Dżamila M. Bogusławska, Piotr Stasiak, Aleksander F. Sikorski
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Life
Subjects:
erythrocyte membrane skeleton
ankyrin-R
spectrin
spectrin-binding domain
ankyrin–spectrin interaction
hereditary spherocytosis
Online Access:https://www.mdpi.com/2075-1729/13/1/151

Internet

https://www.mdpi.com/2075-1729/13/1/151

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