Article
Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG).
American journal of human genetics - 1 May 1990
Nogueira C P, McGuire M C, Graeser C, Bartels C F, Arpagaus M, Van der Spek A F, Lightstone H, Lockridge O, La Du B N
Abstract excerpt
A frameshift mutation that causes a silent phenotype for human serum cholinesterase was identified in the DNA of seven individuals of two unrelated families. The mutation, identified using the polymerase chain reaction, causes a shift in the reading frame from Gly 117, where GGT (Gly)----GGAG (Gly+ 1 base) to a new stop codon created at position 129. This alteration is upstream of the active site (Ser 198), and,...
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