相关实验视频

Updated: Jul 1, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

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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在FANCI中,新型化合物异构性变体会导致过早的卵巢衰竭

Lili Cao1,2,3,4,5,6,7,8, Xinmiao He1,2,3,4,5,6,7,8, Jiayi Ren1,2,3,4,5,6,7,8

  • 1Institute of Women, Children and Reproductive Health, Shandong University, #44 Wenhua Xi Road, Jinan, 250012, Shandong, China.

Human genetics
|March 14, 2024
PubMed
概括

在DNA修复途径的遗传缺陷,特别是Fanconi贫血 (FA) 途径,与早产卵巢缺陷 (POI) 有关. 这项研究确定了新的FANCI基因变异,影响POI患者的复制应激反应.

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