ABCA4

Mariam Ibrahim1,2, Lama Jaffal3, Alexandre Assi4

  • 1Molecular Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

Heliyon
|May 2, 2024
PubMed
概括

在ATP结合盒载体A4 (ABCA4) 类型的基因变异导致遗传性视网膜疾病. 这项研究在黎巴嫩家庭中确定了ABCA4视网膜病变,揭示了这些罕见的眼睛疾病的显著遗传异质性.