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Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).
Rodríguez-Nóvoa, Sonia; Rodríguez-Jiménez, Carmen; Alonso, Concepción; Rodriguez-Laguna, Lara; Gordo, Gema; Martinez-Glez, Victor; García Polo, Iluminada.
Affiliation
  • Rodríguez-Nóvoa S; Genetics of Metabolic Diseases Laboratory, Department of Genetics, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain. Electronic address: soniamaria.rodriguez@salud.madrid.org.
  • Rodríguez-Jiménez C; Genetics of Metabolic Diseases Laboratory, Department of Genetics, Hospital Universitario La Paz, IdiPAZ, Madrid, Spain.
  • Alonso C; Department of Genetics, Hospital de La Princesa, Madrid, Spain.
  • Rodriguez-Laguna L; Vascular Malformations Section, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Spain.
  • Gordo G; Vascular Malformations Section, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Spain.
  • Martinez-Glez V; Vascular Malformations Section, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Spain.
  • García Polo I; Department of Internal Medicine, Hospital de La Princesa, Madrid, Spain.
Atherosclerosis ; 311: 37-43, 2020 10.
Article in En | MEDLINE | ID: mdl-32937241
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypercholesterolemia / Hyperlipoproteinemia Type II Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Atherosclerosis Year: 2020 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypercholesterolemia / Hyperlipoproteinemia Type II Type of study: Diagnostic_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Atherosclerosis Year: 2020 Document type: Article Country of publication: