Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders

Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of...

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Bibliographic Details
Main Authors: Indhu-Shree Rajan-Babu, Samuel S. Chong
Format: Article
Language:English
Published: MDPI AG 2016-10-01
Series:Genes
Subjects:
fragile X syndrome
FXPOI
FXTAS
FMR1
AGG interruption
triplet-primed PCR
screening
CGG repeat
melting curve analysis
methylation
Online Access:http://www.mdpi.com/2073-4425/7/10/87

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http://www.mdpi.com/2073-4425/7/10/87

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