Discovering Rare Variants by Use of Melting Temperature Shifts Seen in Melting Curve Analysis
Author:
Affiliation:
1. Pathology Department, University of Utah School of Medicine, ARUP Laboratories, Salt Lake City, UT
Publisher
Oxford University Press (OUP)
Subject
Biochemistry, medical,Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/51/8/1331/32682585/clinchem1331.pdf
Reference16 articles.
1. Tag CG, Schifflers M-C, Mohnen M, Gressner AM, Weiskirchen R. Atypical melting curve resulting from genetic variation in the 3′-untranslated region at position 20218 in the prothrombin gene analyzed with the LightCycler factor II (prothrombin) G20210A assay [Letter]. Clin Chem2005;51:1560-1561.
2. Mahadevan MS, Benson PV. Factor V null mutation affecting the Roche LightCycler factor V Leiden assay [Technical Brief]. Clin Chem2005;51:1533-1535.
3. Erali M, Schmidt B, Lyon E, Wittwer C. Evaluation of electronic microarrays for genotyping factor V, factor II, and MTHFR. Clin Chem2003;49:732-739.
4. Phillips M, Meadows CA, Huang MY, Millson A, Lyon E. Simultaneous detection of C282Y and H63D hemochromatosis mutations by dual-color probes. Mol Diagn2000;5:107-116.
5. Meadows CA, Warner D, Page S, Lyon E. Detection of novel mutation using fluorescent hybridization probes and melting temperature analysis [Abstract]. J Mol Diagn2001;3:195.
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