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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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Detalles Bibliográficos
Autores principales: Razman, Aimi Zafira, Chua, Yung-An, Mohd Kasim, Noor Alicezah, Al-Khateeb, Alyaa, Sheikh Abdul Kadir, Siti Hamimah, Jusoh, Siti Azma, Nawawi, Hapizah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9736953/
https://www.ncbi.nlm.nih.gov/pubmed/36499307
http://dx.doi.org/10.3390/ijms232314971