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Updated: Jan 15, 2026

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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与FRAXE相关的智力障碍:对一个诊断不足的疾病的临床和分子见解

Isabel Serra Nunes1,2,3, Maria Abreu4, Jorge Diogo Da Silva4,5,6,7,8,9

  • 1Department of Medical Genetics, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, Porto, Portugal. isabelserranunes@gmail.com.

Journal of human genetics
|October 14, 2025
PubMed
概括

由AFF2基因突变引起的FRAXE相关智力发育障碍 (FRAXE-ID) 由于症状变化而被诊断不足. 早期的分子检测对于准确的诊断和受影响的男性的遗传咨询至关重要.

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