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Updated: Jun 13, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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马吉德综合征:在一个中欧血统患者中首次描述

Enrico Drago1, Arinna Bertoni2, Alice Grossi3

  • 1Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.

Rheumatology (Oxford, England)
|September 10, 2024
PubMed
概括

这项研究报告了中欧女孩的第一次马吉德综合征病例,确定了新的LPIN2突变. 通过向IL-1β.治疗,阿纳金拉治疗有效地解决了骨病变和贫血.

关键词:
一个IL-1ββ.马吉德综合征是什么意思亚纳金拉的孩子们卡纳基诺姆巴布的意思是这种疾病是dyserytropoiesis.中性变质症 中性变质症 中性变质症骨解性病变是一种骨解性病变.周围膜炎的时间

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