一名患有智力障碍和脆性X综合征表型的患者出现了广泛的从头缺失，该缺失移除了FMR1基因。 - Suppr

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超能文献

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

作者信息

Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth A S, Lachiewicz A

机构信息

Molecular Genetics and DNA Diagnostic Laboratory, Greenwood Genetic Center, SC 29646.

出版信息

Hum Mol Genet. 1993 Nov;2(11):1973-4. doi: 10.1093/hmg/2.11.1973.

DOI:10.1093/hmg/2.11.1973

PMID:8281165

Abstract

摘要

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An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.一名患有智力障碍和脆性X综合征表型的患者出现了广泛的从头缺失，该缺失移除了FMR1基因。

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Chromosomal fragility and human genetic disorders.染色体脆性与人类遗传疾病

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Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.基于阵列的 FMR1 测序和缺失分析在脆性 X 综合征样表型患者中。

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