Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.

Fahad Alnouri,Faisal A Al-Allaf,Mohammad Athar,Khalid Al-Rasadi,Dalal Alammari,Menwar Alanazi,Zainularifeen Abduljaleel,Zuhier Awan,Abdellatif Bouazzaoui,Ghida Dairi,Wafa M Elbjeirami, Hussam Karra,Abdulhalim J Kinsara,Mohiuddin M Taher

Current vascular pharmacology（2022）

引用 1|浏览3

暂无评分

摘要

In addition to the finding of the novel variant in the LDLR gene that extends the spectrum of variants causing FH, the results of this study also support the need for diagnostic screening and cascade genetic testing of this high-risk condition and to understand the genotype-phenotype correlation, which could lead to better prevention of coronary artery disease.

查看译文

关键词

Familial hypercholesterolemia,cholesterol,coronary artery disease,low-density lipoprotein receptor,next-generation sequencing,variant

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要