A TaqI polymorphism in the human erythroid beta spectrin gene.


Human erythroid spectrin consists of an alpha beta heterodimer. Abnormalities of spectrin are a common cause of hereditary haemolytic anaemias such as hereditary elliptocytosis (HE) and hereditary spherocytosis (HS). To identify the spectrin gene mutation one needs initially to establish which of the spectrin subunits is defective. For this purpose, the… (More)


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