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Updated: Jan 18, 2026

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MYBPC3 c.2309-2A>G:在意大利多变性心肌病患者中探索创始人变异

Marco Fabiani1, Caterina Micolonghi1,2, Silvia Caroselli1

  • 1Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.

European journal of human genetics : EJHG
|May 31, 2025
PubMed
概括

一种特定的MYBPC3基因变异 (c.2309-2 A>G) 被确定为意大利的创始基因突变,导致多变性心肌病 (HCM). 这种变种起源于481年前,在载体中显示出可变的透率和明显的临床影响.

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