Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China

Hereditary spherocytosis (HS) is an inherited disorder characterized by anemia, splenomegaly, and spherical-shaped erythrocytes, caused by mutations in erythrocyte membrane Protein Genes (ANK1, SPTB, SLC4A1, SPTA1, and EPB42). We investigated molecular spectrum and genotype-phenotype correlation in...

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Bibliographic Details
Main Authors: Xiong Wang, Ai Zhang, Ming Huang, Li Chen, Qun Hu, Yanjun Lu, Liming Cheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
hereditary spherocytosis
ANK1
SPTB
variable expressivity
mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00953/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00953/full

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