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Updated: May 16, 2025

A Novel Single Animal Motor Function Tracking System Using Simple, Readily Available Software
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对一种新型FBN1深层内源变异的功能分析,该变异在中国患者中引起马凡综合征

Qingming Wang1, Fang Zhang1, Xinlong Zhou1

  • 1Key Laboratory for Precision Diagnosis and Treatment of Severe Infectious Diseases in Children, Dongguan Maternal and Child Health Hospital, Dongguan, China.

Frontiers in genetics
|April 3, 2025
PubMed
概括

在Marfan综合征患者中发现了FBN1基因中的新型深层内基因变异,扩大了已知的FBN1突变谱. 这一发现凸显了解释内基变异对于准确的分子诊断的重要性.

关键词:
在FBN1中,FBN1是FBN1.马芬综合征是什么意思 马芬综合征是什么意思通过RNA拼接进行RNA拼接.深度内源变异是一种深度内源变异.迷你基因是一种微型基因.

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