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[Analysis and prenatal diagnosis of FMR1 gene mutations among patients with unexplained mental retardation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2021

Luo Shikun, He Wenbin, Liao Yi, Tang Weilin, Li Xiurong, Hu Liang, Du Juan, Zhang Qianjun, Tan Yueqiu, Lin Ge, Li Wen

Abstract excerpt

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEaseTM PCR. Prenatal diagnosis was provided to carriers of pre- and full-mutations. The pattern of X chromosome inactivation (XCI) was determined for women with mental retardation...

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PMID: 33974251
DOI: 10.3760/cma.j.cn511374-20200513-00344

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Source receipt: pubmed, retrieved 7 Sept 2026.

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