Autor: Tejashree Anil More
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Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis
IntroductionHereditary spherocytosis (HS) is the most common inherited red cell membranopathy caused by defects in erythrocyte membrane and cytoskeletal proteins, including ankyrin, spectrin, band 3, and protein 4.2. Among these, mutations in SLC4A1, w…