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

10.3390/genes7100087

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Bibliographic Details
Main Authors:	Rajan-Babu, I.-S, Chong, S.S
Other Authors:	PAEDIATRICS
Format:	Review
Published:	2020
Subjects:	adenine cytosine fragile X mental retardation protein guanine allele ataxia autism DNA flanking region FMR1 gene FMR1 related disorder FMRP antibody test fragile X associated primary ovarian insufficiency fragile X associated tremor ataxia syndrome fragile X syndrome gene mutation genetic association genetic disorder genetic regulation genetic risk genetic screening genomic instability gold standard high risk population human immunoassay intellectual impairment molecular diagnosis molecular genetics molecular pathology mosaicism nonhuman ovary insufficiency phenotype polymerase chain reaction population genetics prevalence protein methylation Review Southern blotting syndrome tremor triplet primed polymerase chain reaction triplet repeat primed polymerase chain reaction vertical transmission X chromosome inactivation
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/173984
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Institution:	National University of Singapore

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