Article
Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.
Human genetics - 1 Sept 1993
Boivin P, Galand C, Devaux I, Lecomte M C, Garbarz M, Dhermy D
Abstract excerpt
Several polymorphic mutations are located on the spectrin alpha-chain; among these the variant termed alpha IIa is characterized by an acid shift in the isoelectric point of the tryptic digest peptides 46 kDa and 35 kDa. In this variant a single amino acid substitution (alanine to aspartic acid) occurred at position 972 of the spectrin alpha-chain due to a point mutation (GCT to GAT) in the DNA. This variant,...
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