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Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN. Alharbi KK, et al. Genome Res. 2005 Jul;15(7):967-77. doi: 10.1101/gr.3313405. Genome Res. 2005. PMID: 15998910 Free PMC article.
MeltMADGE for mutation scanning of specific genes in population studies.
Alharbi KK, Aldahmesh MA, Gaunt TR, Rassoulian H, Ai Guthrie P, Rodriguez S, Boustred CR, Spanakis E, Day IN. Alharbi KK, et al. Nat Protoc. 2010 Nov;5(11):1800-12. doi: 10.1038/nprot.2010.136. Epub 2010 Oct 21. Nat Protoc. 2010. PMID: 21030955 Free PMC article.
Very low PSA concentrations and deletions of the KLK3 gene.
Rodriguez S, Al-Ghamdi OA, Burrows K, Guthrie PA, Lane JA, Davis M, Marsden G, Alharbi KK, Cox A, Hamdy FC, Neal DE, Donovan JL, Day IN. Rodriguez S, et al. Among authors: alharbi kk. Clin Chem. 2013 Jan;59(1):234-44. doi: 10.1373/clinchem.2012.192815. Epub 2012 Nov 20. Clin Chem. 2013. PMID: 23169475
80 results