Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing

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 poo...

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Publicado no:Sci Rep
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6814816/
https://ncbi.nlm.nih.gov/pubmed/31653898
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-51618-7
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