1. Go, Gwang-Woong, Mani, Arya. 2012. Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis. In The Yale journal of biology and medicine, 85, 19-28. doi:. https://pubmed.ncbi.nlm.nih.gov/22461740/
2. Zorzo, R A, Suen, V M M, Santos, J E, Krieger, J E, Liberatore-Jr, R D R. 2023. LDLR gene's promoter region hypermethylation in patients with familial hypercholesterolemia. In Scientific reports, 13, 9241. doi:10.1038/s41598-023-34639-1. https://pubmed.ncbi.nlm.nih.gov/37286669/
3. Abifadel, Marianne, Varret, Mathilde, Rabès, Jean-Pierre, Seidah, Nabil G, Boileau, Catherine. . Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. In Nature genetics, 34, 154-6. doi:. https://pubmed.ncbi.nlm.nih.gov/12730697/
4. Bertolini, Stefano, Pisciotta, Livia, Rabacchi, Claudio, Averna, Maurizio, Calandra, Sebastiano. 2013. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. In Atherosclerosis, 227, 342-8. doi:10.1016/j.atherosclerosis.2013.01.007. https://pubmed.ncbi.nlm.nih.gov/23375686/
5. Di Taranto, Maria Donata, Giacobbe, Carola, Palma, Daniela, Di Minno, Matteo Nicola Dario, Fortunato, Giuliana. 2021. Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement. In Clinical genetics, 100, 529-541. doi:10.1111/cge.14036. https://pubmed.ncbi.nlm.nih.gov/34297352/
6. Molfetta, G A, Zanette, D L, Santos, J E, Silva, W A. 2017. Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil. In Genetics and molecular research : GMR, 16, . doi:10.4238/gmr16039226. https://pubmed.ncbi.nlm.nih.gov/28873201/
7. Diakou, Maria, Miltiadous, George, Xenophontos, Stavroulla L, Cariolou, Marios A, Elisaf, Moses. 2011. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. In European journal of internal medicine, 22, e55-9. doi:10.1016/j.ejim.2011.01.003. https://pubmed.ncbi.nlm.nih.gov/21925044/
8. Cao, M, Theus, S A, Straub, K D, Chiriva-Internati, M, Hermonat, P L. 2015. AAV2/8-humanFOXP3 gene therapy shows robust anti-atherosclerosis efficacy in LDLR-KO mice on high cholesterol diet. In Journal of translational medicine, 13, 235. doi:10.1186/s12967-015-0597-7. https://pubmed.ncbi.nlm.nih.gov/26187646/
9. Villéger, Ludovic, Abifadel, Marianne, Allard, Delphine, Boileau, Catherine, Varret, Mathilde. . The UMD-LDLR database: additions to the software and 490 new entries to the database. In Human mutation, 20, 81-7. doi:. https://pubmed.ncbi.nlm.nih.gov/12124988/