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- W2023189369 abstract "We studied an African population in Benin and discovered an unexpectedly high frequency (1.6%) of hereditary elliptocytosis (HE) among the 1447 subjects studied. In approximately two‐thirds of HE individuals we identified molecular defects, primarily those in erythrocyte α‐spectrin (dupL154, L260P and L207P mutations), as well as a novel mutation of erythrocyte β‐spectrin (β‐W2061R mutation). We also identified the genetic basis of a previously identified protein polymorphism of the αIII domain of spectrin (R1331I mutation). The genetic background of HE in the African population was studied using a number of polymorphisms of the α‐spectrin gene, including the αIII domain polymorphism. These studies suggest that the HE mutations appear to have originated from separate genetic backgrounds in this population." @default.
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- W2023189369 date "1996-10-01" @default.
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- W2023189369 title "Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin" @default.
- W2023189369 doi "https://doi.org/10.1046/j.1365-2141.1996.d01-1869.x" @default.
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