Article
The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis.
Genetic testing and molecular biomarkers - 1 Jan 2024
Shen Hao, Gao Zhigang, Ye Qing
Abstract excerpt
Objective: Hereditary spherocytosis (HS) is a common hereditary hemolytic disease. This study aimed to explore the correlation between the phenotype and mutant genotype of HS to improve the clinical understanding of HS. Methods: This study reported a case of spontaneous mutation of the ANK1 gene in HS, reviewed previous studies on the genotype-phenotype correlation of HS, statistically analyzed the main types of...
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