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Updated: May 11, 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

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作为RFC1相关疾病遗传和临床复杂性的例子,CANVAS

Filip Tomczuk1, Anna Sulek2, Piotr Janik3

  • 1Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. ftomczuk@ipin.edu.pl.

Neurologia i neurochirurgia polska
|April 17, 2025
PubMed
概括

带有神经病变和双侧前庭缩症综合征 (CANVAS) 的大脑缩与RFC1基因重复扩张有关. 需要进一步的研究来了解它的机制和开发治疗方法.

关键词:
AAGGG重复扩张的重复扩张在RFC1基因.双边前庭的反是双边前庭的反.大脑小小脑的无氧.感官神经病变是一种神经病变.

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