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Carlo Pirazzi, Lina Håkansson, Carola Gustafsson, Elmir Omerovic, Olov Wiklund & Rosellina Margherita Mancina. (2019) High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease. The Application of Clinical Genetics 12, pages 71-78.
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Zuhier AWAN, Alhanuf BATRAN, Faisal A. AL-ALLAF, Raneem S. ALHARBI, Gehan A. HEGAZY, Bassam JAMALALAIL, Majid ALMANSOURI, Abdulhadi I. BIMA, Haifa ALMUKADI, Hussam I. KUTBI, Ahmed E. ALTAYAR, Babajan BANAGANAPALLI & Noor A. SHAIK. (2023) Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients. Panminerva Medica 65:4.
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Mohammad Athar, Mawaddah Toonsi, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Neda M. Bogari, Anas Dannoun & Faisal A. Al-Allaf. (2023) Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights. Life 13:7, pages 1542.
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Meshari A. Alaifan, Ohood Abusharifah, Rana Yagoub Bokhary, Babajan Banaganapalli, Noor Ahmad Shaik, Naglaa M. Kamal & Omar I. Saadah. (2022)
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Zuhier Ahmed Awan, Omran M. Rashidi, Bandar Ali Al-Shehri, Kaiser Jamil, Ramu Elango, Jumana Y. Al-Aama, Robert A. Hegele, Babajan Banaganapalli & Noor A. Shaik. (2021) Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen. Frontiers in Medicine 8.
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Asier Benito-Vicente, Kepa Uribe, Shifa Jebari, Unai Galicia-Garcia, Helena Ostolaza & Cesar Martin. (2018) Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease. International Journal of Molecular Sciences 19:11, pages 3426.
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Aitor Etxebarria, Asier Benito-Vicente, Lourdes Palacios, Marianne Stef, Ana Cenarro, Fernando Civeira, Helena Ostolaza & Cesar Martin. (2015) Functional Characterization and Classification of Frequent Low-Density Lipoprotein Receptor Variants. Human Mutation 36:1, pages 129-141.
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Feng Gao, Hansel E. Ihn, Marisa W. Medina & Ronald M. Krauss. (2013) A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function. Human Molecular Genetics 22:7, pages 1424-1431.
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Said M. Shawar, Mohammad A. Al-Drees, Ahmad R. Ramadan, Najat H. Ali & Suad M. AlFadhli. (2012) The Arabic allele: A single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia. Atherosclerosis 220:2, pages 429-436.
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Aitor Etxebarria, Lourdes Palacios, Marianne Stef, Diego Tejedor, Kepa B. Uribe, Amalia Oleaga, Luis Irigoyen, Beatriz Torres, Helena Ostolaza & Cesar Martin. (2012) Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. Human Mutation 33:1, pages 232-243.
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Gerardo Vaca, Alejandra Vàzquez, Marìa Teresa Magaña, Marìa Lourdes Ramìrez, Ingrid P. Dàvalos, Esperanza Martìnez, Bertha Marìn & Gabriela Carrillo. (2011) Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia. Atherosclerosis 218:2, pages 391-396.
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