Article
Two different mutations in codon 68 are observed in Hb G-Philadelphia heterozygotes.
American journal of hematology - 1 Apr 1994
Molchanova T P, Pobedimskaya D D, Ye Z, Huisman T H
Abstract excerpt
Through sequencing of amplified DNA containing the appropriate alpha-globin genes we have identified the base substitution leading to the formation of Hb G-Philadelphia [alpha 68(E17)Asn Lys]. Three subjects (approximately 25% Hb G) had an ACC AAA change at codon 68 of the alpha 2-globin gene; the chromosome with this mutation carried two alpha genes (alpha alpha). Six subjects (approximately 33% Hb G) had an AAC...
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