Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia
In this study, we identified two heterozygous pathogenic variants in the LDLR gene, c.G1027A (p.Gly343Ser) and c.G1879A (p.Ala627Thr), in a family with familial hypercholesterolemia. We also conducted preliminary investigations into the mechanisms by which these mutations contribute to disease pathology.
Authors
- Xin-fu Lin
- Lisheng Liao (ORCID: https://orcid.org/0000-0002-6844-4113)
- Yanan Hu (ORCID: https://orcid.org/0000-0001-6704-6108)
- Jie-wei Luo (ORCID: https://orcid.org/0000-0003-4271-4848)
- Fan Lin (ORCID: https://orcid.org/0000-0001-9634-2408)
- Dan‐dan Ruan (ORCID: https://orcid.org/0000-0001-9611-2979)
- Hong Li (ORCID: https://orcid.org/0000-0001-5731-5335)
- Min Wu (ORCID: https://orcid.org/0000-0003-0977-3600)
- Ying Chen (ORCID: https://orcid.org/0000-0003-1180-7320)
- Yanping Zhang (ORCID: https://orcid.org/0000-0001-8150-7265)
- Jianhui Zhang (ORCID: https://orcid.org/0000-0002-3053-3428)
- Hongping Yu (ORCID: https://orcid.org/0000-0001-9851-2351)
- Zhu-ting Fang (ORCID: https://orcid.org/0000-0003-3350-2210)
- Jing Zou (ORCID: https://orcid.org/0000-0002-8098-7284)
- Qiuyan Wu (ORCID: https://orcid.org/0009-0003-2507-3265)
- Li Zhang (ORCID: https://orcid.org/0000-0002-1231-8927)
Institutions
- Fujian Medical University (CN)
- Fujian Provincial Hospital (CN)
- Fuzhou University (CN)
Publication Details
- Journal
- PLoS ONE
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1371/journal.pone.0310547
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00