Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing

Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing

Hereditary spherocytosis (HS), the most commonly inherited hemolytic anemia in northern Europeans, comprises a group of diseases whose heterogeneous genetic basis results in a variable clinical presentation. High-throughput genome sequencing methods have made a leading contribution to the recent pro...

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Bibliographic Details
Main Authors: Dżamila M. Bogusławska, Michał Skulski, Beata Machnicka, Stanisław Potoczek, Sebastian Kraszewski, Kazimierz Kuliczkowski, Aleksander F. Sikorski
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:International Journal of Molecular Sciences
Subjects:
hereditary spherocytosis
β-spectrin
actin binding domain
whole exome sequencing
Online Access:https://www.mdpi.com/1422-0067/22/20/11007

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