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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814816/ https://www.ncbi.nlm.nih.gov/pubmed/31653898 http://dx.doi.org/10.1038/s41598-019-51618-7

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