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

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...

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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
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https://doi.org/10.1186/s43042-025-00673-z

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