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遗传因素有助于GJB2相关听力障碍的表型变异

Yu-Ting Chiang1, Pei-Hsuan Lin2, Ming-Yu Lo3

  • 1Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.

The Journal of molecular diagnostics : JMD
|September 8, 2023
PubMed
概括

在GJB2的遗传变异导致神经感官听力损伤 (SNHI). 这项研究发现,其他基因变异和CRYL1变异 (rs14236) 可能解释SNHI严重程度的广泛范围,即使在患有相同GJB2变异的患者中也是如此.

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