Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. The primary objective of this study was to identify the major pathogenic mutations in a Chinese family with FH. METHODS: Whole-genome sequencing (WGS) was used to identify variants of FH-related genes, includin...

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Detalles Bibliográficos
Autores principales: Lv, Xian, Wang, Chunyue, Liu, Lu, Yin, Guoqing, Zhang, Wen, Abdu, Fuad A., Shi, Tingting, Zhang, Qingfeng, Che, Wenliang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585857/
https://www.ncbi.nlm.nih.gov/pubmed/37853441
http://dx.doi.org/10.1186/s12944-023-01935-8

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