Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants

This publication has 35 references indexed in Scilit:

• Four Novel Partial Deletions of LDL-Receptor Gene in Italian Patients With Familial Hypercholesterolemia
  Arteriosclerosis, Thrombosis, and Vascular Biology, 1995
• Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia
  Atherosclerosis, 1994
• A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene
  Clinical Genetics, 1994
• Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia
  Archives of internal medicine (1960), 1993
• Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
  Published by Elsevier ,1993
• The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
  Journal of Clinical Investigation, 1992
• Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
  Journal of Medical Genetics, 1991
• Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion
  Atherosclerosis, 1990
• A routine method for storing lymphocytes for repeated isolation of DNA
  Prenatal Diagnosis, 1988
• Identification of deletions in the human low density lipoprotein receptor gene.
  Journal of Medical Genetics, 1987