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Updated: Jun 29, 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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[新生儿查,临床特征和基因分析河南省的素缺乏症]

Xinyun Zhu1, Yizhuo Xu, Jie Zhang

  • 1Department of Neonatal Screening, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. zhaodehua369@163.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|April 2, 2024
PubMed
概括

在中国河南省,每109,618名新生儿中就有1名患有素缺乏症. 早期诊断和治疗由SLC25A13基因变异引起的氨酸缺乏症,导致预后良好.

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Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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