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

Authors :
Soyoung Shin
Kyung-Ah Hwang
Kyu-hyun Paik
Joonhong Park
Source :
Hematology. 25:321-326
Publication Year :
2020
Publisher :
Informa UK Limited, 2020.

Abstract

Objectives: Hereditary elliptocytosis (HE) is inherited in an autosomal dominant fashion, and the majority of HE-associated defects occur due to qualitative and quantitative defects in the RBC memb...

Details

ISSN :
16078454
Volume :
25
Database :
OpenAIRE
Journal :
Hematology
Accession number :
edsair.doi...........3b845a2246316be5c80aed0eb149a7fe
Full Text :
https://doi.org/10.1080/16078454.2020.1807227