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Updated: Nov 18, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

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Inequities in diagnosis of Fragile X syndrome in Colombia

Wilmar Saldarriaga-Gil1, Ana Maria Cabal-Herrera1, Andrés Fandiño-Losada1

  • 1Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.

Journal of Applied Research in Intellectual Disabilities : JARID
|February 4, 2021
PubMed
Abstract

Keywords:
FMR1 full mutationFMR1 premutationage at the time of diagnosisfinancial coverage of molecular testsfrequencies of FM and PM allelestype of health insurance

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