A Deletional Frameshift Mutation of the P-Spectrin Gene Associated With Elliptocytosis in Spectrin Tokyo
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چکیده
A novel spectrin variant carrying a truncated p-chain and designated Spectrin Tokyo (p2zo/216) is presented. It was associated with elliptocytosis and moderate uncompensated hemolysis. The dimer self-association was reduced. An increase of the al 74-Kd fragment was detected upon partial trypsin digestion. Analysis of cDNA and genomic DNA showed a 1-base deletion in codon 2059 ( G G AGC 4 GCA GCT; Ala-Ser + Ala-Ala) that belongs to exon X of spectrin p-gene. A missense sequence extended down to (new) codon 2075. Serine 2060, a potential phosphorylation site, was
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Spectrin Rouen ( f 8220 - 218 ) , a Novel Shortened # ? - Chain Variant in a Kindred with Hereditary Elliptocytosis
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