High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes-Reference-Cited by-同舟云学术

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High-Throughput Methylation-Specific Triplet-Primed PCR and Melting Curve Analysis for Selective and Reliable Identification of Actionable FMR1 Genotypes

Published:2022-03 Issue:3 Volume:24 Page:241-252
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Rajan-Babu Indhu-Shree,Phang Gui-Ping,Law Hai-Yang,Lee Caroline G.^ORCID,Chong Samuel S.^ORCID

Funder

National University Health System

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference37 articles.

1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome;Verkerk;Cell,1991

2. Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms;Hagerman;Acta Neuropathol (Berl),2013

3. Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size;Allen;Genet Med,2021

4. Fragile X-associated neuropsychiatric disorders (FXAND);Hagerman;Front Psychiatry,2018

5. DNA methylation represses FMR-1 transcription in fragile X syndrome;Sutcliffe;Hum Mol Genet,1992

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