Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients

This publication has 10 references indexed in Scilit:

• Haplotype Structure and Population Genetic Inferences from Nucleotide-Sequence Variation in Human Lipoprotein Lipase
  American Journal of Human Genetics, 1998
• A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency
  Atherosclerosis, 1997
• Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene
  Human Genetics, 1993
• Dinucleotide repeat polymorphisms at the lipoprotein lipase (LPL) locus
  Human Genetics, 1993
• A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1992
• Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.
  Journal of Clinical Investigation, 1992
• Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
  Journal of Clinical Investigation, 1991
• Genetic variants affecting human lipoprotein and hepatic lipases
  Current Opinion in Lipidology, 1991
• Plasma apolipoprotein CII levels in hypertriglyceridemia
  Metabolism, 1986
• Decline of postheparin plasma lipoprotein lipase in acromegalic patients
  Metabolism, 1980