Genetic screening of malay familial hypercholesterolemia patient for LDLRAP1/PCSK9/APOB mutations via whole exome sequencing

Abstract Background Familial Hypercholesterolemia (FH) is a hereditary lipid disorder with an autosomal dominant genetic inheritance, characterized by high low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerosis. An elevated cholesterol level is correlated with a high risk o...

Full description

Saved in:

Bibliographic Details
Main Authors:	Muhammad-Redha Abdullah-Zawawi, Zam Zureena Mohd Rani, Nur Syakeera Seeni Ahamed Mydeen, Ryia Illani Mohd Yunos, Siti Aishah Sulaiman, Izzatul ‘Aliaa Badaruddin, Rose Ismet, Norlaila Mustafa, Syahidatun Najwa Abu Zahid, Rahman Jamal, Azrul Azlan Hamzah, Nor Azian Abdul Murad
Format:	Article
Language:	English
Published:	SpringerOpen 2025-03-01
Series:	Egyptian Journal of Medical Human Genetics
Subjects:	Familial hypercholesterolemia Whole exome sequencing Sanger sequencing Family screening Cardiovascular disease
Online Access:	https://doi.org/10.1186/s43042-025-00673-z
Tags:	Add Tag No Tags, Be the first to tag this record!

Be the first to leave a comment!

Genetic screening of malay familial hypercholesterolemia patient for LDLRAP1/PCSK9/APOB mutations via whole exome sequencing

Similar Items