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Titlebook: Rapid Cycle Real-Time PCR; Methods and Applicat Stefan Meuer,Carl Wittwer,Kan-Ichi Nakagawara Book 2001 Springer-Verlag Berlin Heidelberg 2

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High-Speed Methylenetetrahydrofolate Reductase C → T 677 Mutation Detection on the LightCyclermia. Increased plasma homocysteine is partly due to a thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) resulting from a C to T transition at nucleotide 677 (Ala222Val) and is implicated as a risk factor for vascular and thromboembolic disease and neural tube defects [3].
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Rapid Cycle Real-Time PCR: Methods and Applicationserely by temperature cycling the sample. Of course, automated thermal cyclers were not available yet, so most laboratories experienced a new incarnation of monotony, the repetitive manual transfer of PCR samples between 3 different water baths. It was clear that there must be a better way.
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High-Speed Detection of α1-Antitrypsin Deficiency Alleles Pi*S and Pi*Z on the LightCycler gene. The three most important variants are type M (90% of population), type S (Pi*S) and type Z (Pi*Z). Homozygotes of type Z have a considerable reduction in the serum α.-antitrypsin concentration and may develop pulmonary emphysema or hepatic cirrhosis. SZ-heterozygotes are less severely affected [1–3].
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