A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein

This publication has 12 references indexed in Scilit:

• The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark
  Atherosclerosis, 1996
• Allele-specific measurement of low-density lipoprotein receptor transcript levels
  Human Mutation, 1996
• Allele-specific quantitation of low density lipoprotein receptor gene transcripts
  Atherosclerosis, 1995
• Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
  Atherosclerosis, 1994
• Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
  Human Molecular Genetics, 1994
• Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
  Human Mutation, 1994
• The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners
  Annals of Human Genetics, 1991
• Common low-density lipoprotein receptor mutations in the French Canadian population.
  Journal of Clinical Investigation, 1990
• [29] Synthesis and sequence-specific proteolysis of hybrid proteins produced in Escherichia coli
  Published by Elsevier ,1987
• A new technique for the assay of infectivity of human adenovirus 5 DNA
  Virology, 1973