Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing

Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes, predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin-type 9 (PCSK9) and LDL receptor adaptor protein 1 (LDLRAP1). The prevalence of genetically c...

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Bibliographic Details
Main Authors: Aimi Zafira Razman, Yung-An Chua, Noor Alicezah Mohd Kasim, Alyaa Al-Khateeb, Siti Hamimah Sheikh Abdul Kadir, Siti Azma Jusoh, Hapizah Nawawi
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
familial hypercholesterolaemia
FH
genetic testing
next generation sequencing
pathogenic variants
LDLR gene
Online Access:https://www.mdpi.com/1422-0067/23/23/14971

Internet

https://www.mdpi.com/1422-0067/23/23/14971

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