非翻译区
队列
遗传学
生物
医学
内科学
基因
信使核糖核酸
作者
Jiaxi Yu,Jingli Shan,Meng Yu,Li Di,Zhiying Xie,Wei Zhang,He Lv,LingChao Meng,Yiming Zheng,Yawen Zhao,Qiang Gang,Xueyu Guo,Yang Wang,Jianying Xi,Wenhua Zhu,Yuwei Da,Daojun Hong,Yun Yuan,Chuanzhu Yan,Zhi‐Qiang Wang,Jianwen Deng
标识
DOI:10.1016/j.ajhg.2022.10.003
摘要
To the Editor: We appreciate Eura et al.1 for their interest in our recently published work. We read their letter, which demonstrated none of 159 Japanese individuals with ophthalmopharyngeal myopathy (OPDM) had abnormal CGG repeat expansion in the 5′ untranslated region (5′ UTR) of RILPL1 detected by RP-PCR, with great interest. The repeat sizes of all alleles detected by AL-PCR were within the range observed in unaffected controls. They concluded that the CGG repeat expansion in RILPL1 was rare in the Japanese cohort of individuals with OPDM.
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