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Updated: Sep 14, 2025

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在LDLR的5'UTR中出现的新型起始码子变异与家族性高胆固醇血症相关

Martin Bird1, Chris Jyun-Peng Tung2, Alan M Pittman3

  • 1Cardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's, University of London, London, UK. mbird@sgul.ac.uk.

European journal of human genetics : EJHG
|July 24, 2025
PubMed
概括

家族性高胆固醇血症 (FH) 是一种遗传性疾病. 一种新型的LDLR5'UTR变异通过过早启动翻译导致FH,突出显示了扩大遗传查的必要性.

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