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Updated: May 28, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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患有JP-HHT的患者的动脉静脉形缺陷在SMAD4中存在两种第二次发生的体质DNA变异

Evon DeBose-Scarlett1, Andrew K Ressler1, Cassi Friday2

  • 1Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA.

Journal of medical genetics
|February 12, 2025
PubMed
概括

遗传性出血性远程切除症 (HHT) 与血管形有关. 这项研究表明,SMAD4基因突变,特别是双性功能丧失,有助于HHT患者的面动脉静脉形形.

关键词:
功能丧失 突变 突变血管疾病 血管疾病

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