Trp64—-nonsense mutation in the lipoprotein lipase gene.
نویسندگان
چکیده
منابع مشابه
Trp64----nonsense mutation in the lipoprotein lipase gene.
A lipoprotein lipase (LpL) gene defect has been identified, a G----A transition at nucleotide position 446 of exon 3, resulting in a premature termination codon (Trp----stop) at amino acid residue 64. This defect was identified in a Type I hyperlipoproteinemic subject with an amino acid residue 194 defect in the other allele. Plasma lipoprotein values as well as LpL mass and activity in posthep...
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ژورنال
عنوان ژورنال: Journal of Lipid Research
سال: 1992
ISSN: 0022-2275
DOI: 10.1016/s0022-2275(20)41511-1