Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.

Lignende værker

• Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.
  af: Emi, M, et al.
  Udgivet: (1990)
• Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene.
  af: Hata, A, et al.
  Udgivet: (1990)
• Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.
  af: Miesenböck, G, et al.
  Udgivet: (1993)
• Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency.
  af: Hokanson, J E, et al.
  Udgivet: (1999)
• Two RFLPs at the lipoprotein lipase (LPL) gene.
  af: Hegele, R A, et al.
  Udgivet: (1989)