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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Clin Epigenetics
Hlavní autoři: Hadd, Andrew G., Filipovic-Sadic, Stela, Zhou, Lili, Williams, Arianna, Latham, Gary J., Berry-Kravis, Elizabeth, Hall, Deborah A.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5131543/
https://ncbi.nlm.nih.gov/pubmed/27980694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-016-0280-8
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky