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Updated: Mar 14, 2026

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

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在FLNA与周腔结节异位相关的支链变体的表征FLNA与周腔结节异位相关的

Yiyuan Zhang1,2,3, Yanru Huang4,5, Xianjing Huang1,2

  • 1Department of Reproductive Medicine, Women and Children's Hospital, School of Medicine, Xiamen University, Fujian, China.

Neurology. Genetics
|March 13, 2026
PubMed
概括

这项研究确定了一种新型的FLNA基因拼接变异,导致一个中国家庭的周周结节异构 (PNH). 它强调了马赛克遗传和双重转录机制,这对于PNH遗传咨询和诊断至关重要.

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Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

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