A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

BACKGROUND: Epigenetic modifications of the fragile X mental retardation 1 (FMR1) gene locus may impact the risk for reproductive and neurological disorders associated with expanded trinucleotide repeats and methylation status in the 5′ untranslated region. FMR1 methylation is commonly assessed by S...

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Detalles Bibliográficos
Autores principales: Hadd, Andrew G., Filipovic-Sadic, Stela, Zhou, Lili, Williams, Arianna, Latham, Gary J., Berry-Kravis, Elizabeth, Hall, Deborah A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131543/
https://www.ncbi.nlm.nih.gov/pubmed/27980694
http://dx.doi.org/10.1186/s13148-016-0280-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131543/
https://www.ncbi.nlm.nih.gov/pubmed/27980694
http://dx.doi.org/10.1186/s13148-016-0280-8

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