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In-silico analysis of mutations in ANK1, SPTB, SPTA1, SLC4A1, and EPB4.2 genes responsible for Hereditary Spherocytosis

2021-05-05

Abstract excerpt

Hereditary spherocytosis (HS) is a rare inherited disorder of red blood cells which are characterized by spherical, doughnut-shaped with increase deformability that lead to the gallstones and splenomegaly. The role of mutation in the genes responsible for the regulation of synthesis of proteins and stucture of RBC is well know studied. It was found that there are five genes whose mutation result in hereditary sphe...

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Literature Corpus work: 60423e14-6c11-5715-8a11-41e4edcc0aae
DOI: 10.21203/rs.3.rs-464356/v1

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In-silico analysis of mutations in ANK1, SPTB, SPTA1, SLC4A1, and EPB4.2 genes responsible for Hereditary SpherocytosisDOI 10.21203/rs.3.rs-464356/v1Read

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