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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Detalles Bibliográficos
Autores principales: Bogusławska, Dżamila M., Skulski, Michał, Machnicka, Beata, Potoczek, Stanisław, Kraszewski, Sebastian, Kuliczkowski, Kazimierz, Sikorski, Aleksander F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8540824/
https://www.ncbi.nlm.nih.gov/pubmed/34681667
http://dx.doi.org/10.3390/ijms222011007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8540824/
https://www.ncbi.nlm.nih.gov/pubmed/34681667
http://dx.doi.org/10.3390/ijms222011007

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