A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Conclusion: The present study confirmed a novel mutation of the EPB41 gene that plays an important role in expanding the mutational distribution in HE-1. It could also be helpful for understanding the correlation between the genotype and phenotype in HE. PMID: 32807033 [PubMed - in process]
Source: Hematology - Category: Hematology Tags: Hematology Source Type: research