Genetic diagnosis of familial hypercholesterolaemia: a mutation and a rare non-pathogenic amino acid variant in the same family

This publication has 19 references indexed in Scilit:

• Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia
  Arteriosclerosis, Thrombosis, and Vascular Biology, 2003
• Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
  Nature Genetics, 2003
• A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
  Atherosclerosis, 2003
• The UMD-LDLR database: additions to the software and 490 new entries to the database
  Human Mutation, 2002
• A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom
  European Journal of Human Genetics, 2001
• I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
  Journal of Medical Genetics, 2000
• Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia
  Atherosclerosis, 1998
• Comparison of the Genetic Defect with LDL-Receptor Activity in Cultured Cells from Patients With a Clinical Diagnosis of Heterozygous Familial Hypercholesterolemia
  Arteriosclerosis, Thrombosis, and Vascular Biology, 1997
• Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.
  Journal of Medical Genetics, 1995
• Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents
  The American Journal of Cardiology, 1993