Article
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.
Scientific reports - 25 Oct 2019
Hensel Charles H, Vanzo Rena J, Martin Megan M, Ling Ling, Aliaga Solange M, Bui Minh, Francis David I, Twede Hope, Field Michael H, Morison Jonathon W, Amor David J, Godler David E
Abstract excerpt
In 2016, Methylation-Specific Quantitative Melt Analysis (MS-QMA) on 3,340 male probands increased diagnostic yield from 1.60% to 1.84% for fragile X syndrome (FXS) using a pooling approach. In this study probands from Lineagen (UT, U.S.A.) of both sexes were screened using MS-QMA without sample pooling. The cohorts included: (i) 279 probands with no FXS full mutation (FM: CGG > 200) detected by AmplideX CGG...
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