S65CSerine 65 to Cysteine
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References in periodicals archive ?
Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espirito Santo, Brazil.
The HFE genetic test performed in our molecular genetics pathology laboratory assesses for C282Y, H63D, and S65C variants by multiplex polymerase chain reaction and postamplification melt curve analysis.
HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.
The S65C mutation introduces an additional 3rd mismatch between primer and target, because the S65C mutation is also located in the binding site of the reverse 63mut primer.
In brief, 6 points could be achieved in analyzing sample A: 1 point was awarded for the identification of the HFE PCR product, 1 point for the detection of the structure of the PCR product (e.g., genomic DNA, cDNA), 1 point for the correct comment on the deviation from the wild-type HFE sequence, and 1 point for the correct identification of each variation (H63D, S65C, IVS2 + 4).
HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.
Sample 3 was generated at the coordinator's laboratory by use of a DNA sample from a patient heterozygous for 2 coding mutations in the HFE gene (H63D and S65C) and for 1 homozygous mutation in intron 2 (IVS2 + 4) (21, 22).
HFE mutations H63D, S65C, and C282Y were detected by PCR amplification followed by restriction enzyme analysis.