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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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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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[Clinical practice guidelines for Fragile X syndrome]

Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association

    Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
    |November 1, 2022
    PubMed
    Summary

    Fragile X syndrome (FXS), a common cause of inherited intellectual disability and autism, results from FMR1 gene CGG repeat expansion. Genetic testing guides early diagnosis and treatment for affected families.

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