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Molecular testing for adult type Alport syndrome.
Pont-Kingdon G, Sumner K, Gedge F, Miller C, Denison J, Gregory M, Lyon E. Pont-Kingdon G, et al. Among authors: lyon e. BMC Nephrol. 2009 Nov 17;10:38. doi: 10.1186/1471-2369-10-38. BMC Nephrol. 2009. PMID: 19919694 Free PMC article.
The Alport syndrome COL4A5 variant database.
Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E. Crockett DK, et al. Among authors: lyon e. Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312. Hum Mutat. 2010. PMID: 20574986
Validation of an unlabeled probe melting analysis assay combined with high-throughput extractions for genotyping of the most common variants in HFE-associated hereditary hemochromatosis, C282Y, H63D, and S65C.
Sumner K, Hubley L, Pont-Kingdon G, Mitchell S, Wayman T, Wilson A, Meadows C, Elenitoba-Johnson K, Pattison D, Dobrowolski S, Best H, Lyon E. Sumner K, et al. Among authors: lyon e. Genet Test Mol Biomarkers. 2012 Jul;16(7):656-60. doi: 10.1089/gtmb.2011.0204. Epub 2012 Feb 24. Genet Test Mol Biomarkers. 2012. PMID: 22364140
348 results