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Updated: Jan 15, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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来自CTNNB1综合征患者的病原性β-catenin变体的基因型-表型表征和功能复合

Caroline E Nunes-Xavier1,2, Mercè Pallarès-Sastre3, Ana Rodríguez-Ramos1,2

  • 1Biobizkaia Health Research Institute, Barakaldo, Spain.

PLoS genetics
|October 13, 2025
PubMed
概括

在CTNNB1基因的生殖系变异导致CTNNB1综合征,导致切断的β-catenin. 一些变体显示出更好的稳定性和部分功能救援,提供治疗见解.

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