Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

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Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

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Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

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Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

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Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

@en

Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

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Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

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Detecting AGG Interruptions in ...... A 1 Year Clinical Experience.

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P1476

Detecting AGG Interruptions in ...... : A 1 Year Clinical Experience

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P2093

Hilde Van Esch

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Joris R Vermeesch

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Koenraad Devriendt

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Simon Ardui

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Thomy de Ravel

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Valerie Race

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P2860

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

Fragile X-associated tremor/ataxia syndrome.

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

FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

A flexible and efficient template format for circular consensus sequencing and SNP detection

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter.

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150

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scholarly article

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10.3389/FGENE.2018.00150

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P478

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Gert Matthijs

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2018-05-16T00:00:00Z

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29868108

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5964127

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