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在患有先天性白内障的家庭中FYCO1中的突变的识别和功能性表征

Muhammad Ikram Ullah1, Zaira Rehman2, Rubina Dad3

  • 1Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 72388, Saudi Arabia.

Life (Basel, Switzerland)
|August 26, 2023
PubMed
概括

已知的FYCO1基因突变导致四个家族的先天性白内障 (CC). 这一遗传发现有助于诊断儿童失明,并为产前检测和遗传咨询提供了前景.

关键词:
在FYCO1中,FYCO1是指FYCO1.遗传性白内障是一种先天性白内障.有血缘关系的家庭.在分析中,分析.突变是发生在突变中的突变.

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