Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene.

Παρόμοια τεκμήρια

• Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene.
  ανά: Hata, A, κ.ά.
  Έκδοση: (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.
  ανά: Hata, A, κ.ά.
  Έκδοση: (1990)
• Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
  ανά: Wilson, D E, κ.ά.
  Έκδοση: (1990)
• Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency.
  ανά: Devlin, R H, κ.ά.
  Έκδοση: (1990)
• Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
  ανά: Wilson, D E, κ.ά.
  Έκδοση: (1993)