Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Endocrinology,Biochemistry
Reference23 articles.
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1. CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing;PLOS ONE;2024-03-20
2. Duplication of exon 7–12 in the low-density lipoprotein receptor gene in three Danish patients with familial hypercholesterolemia;Journal of Clinical Lipidology;2013-03
3. Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment;Proceedings of the National Academy of Sciences;2005-01-27
4. Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene That Cause a Receptor-Defective or Receptor-Negative Phenotype;Arteriosclerosis, Thrombosis, and Vascular Biology;2000-09
5. Construction and in Vitro Functional Evaluation of a Low-Density Lipoprotein Receptor/Transferrin Fusion Protein as a Therapeutic Tool for Familial Hypercholesterolemia;Human Gene Therapy;1999-05
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