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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Vydáno v:Front Genet
Hlavní autoři: Wang, Xiong, Zhang, Ai, Huang, Ming, Chen, Li, Hu, Qun, Lu, Yanjun, Cheng, Liming
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7461774/
https://ncbi.nlm.nih.gov/pubmed/33014018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00953
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