Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)
Sonia Rodríguez‐Nóvoa, Carmen Rodríguez‐Jiménez, C. Alonso, Lara Rodríguez‐Laguna, Gema Gordo, Víctor Martínez‐Glez, Iluminada García Polo
Topics & Concepts
Familial hypercholesterolemiaLDL receptorSanger sequencingBiologyMissense mutationGeneticsMolecular biologyGenotypingGenePyrosequencingDNA sequencingGenotypeMutationLipoproteinCholesterolBiochemistryLipoproteins and Cardiovascular HealthGenomics and Rare DiseasesBlood disorders and treatments