Article

Two Variants of the <i>ANK1</i> Gene Associated with Hereditary Spherocytosis

2025-01-03

Abstract excerpt

Hereditary spherocytosis (HS) is an erythrocytic membranopathy that belongs to a group of rare genetic disorders. Mutations in five genes, including ANK1, cause clinical manifestations of the disease. Identified variations in individual families provide a better understanding of the molecular basis of the disease. In this study, we used two sequencing methods, WES and Sanger sequencing, analyzing gDNA and cDNA as...

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Literature Corpus work: 857ac3e5-2cef-5aa8-84ac-2a09671c573f
DOI: 10.20944/preprints202501.0153.v1

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