Novel Variant of the <i>SLC4A1</i> Gene Associated with Hereditary Spherocytosis

Novel Variant of the <i>SLC4A1</i> Gene Associated with Hereditary Spherocytosis

Hereditary spherocytosis (HS) refers to the group of the most frequently occurring non-immune hereditary hemolytic anemia in people of Caucasian central or northern European ancestry. HS is mainly associated with pathogenic variants of genes encoding defects in five membrane proteins, including anio...

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Bibliographic Details
Main Authors: Dżamila M. Bogusławska, Sebastian Kraszewski, Michał Skulski, Stanisław Potoczek, Kazimierz Kuliczkowski, Aleksander F. Sikorski
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Biomedicines
Subjects:
hereditary spherocytosis
anion exchanger 1
erythrocyte membrane protein
molecular dynamics simulation
whole exome sequencing
Online Access:https://www.mdpi.com/2227-9059/11/3/784

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https://www.mdpi.com/2227-9059/11/3/784

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