Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
M Reina, JD Brunzell, SS Deeb - Journal of lipid research, 1992 - ASBMB
The molecular basis of familial chylomicronemia (type I hyperlipoproteinemia), a rare
autosomal recessive trait, was investigated in six unrelated individuals (five of Spanish
descent and one of Northern European extraction). DNA amplification by polymerase chain
reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis
allowed rapid identification of the underlying mutations. Six different mutant alleles (three of
which are previously undescribed) of the gene encoding lipoprotein lipase (LPL) were …
autosomal recessive trait, was investigated in six unrelated individuals (five of Spanish
descent and one of Northern European extraction). DNA amplification by polymerase chain
reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis
allowed rapid identification of the underlying mutations. Six different mutant alleles (three of
which are previously undescribed) of the gene encoding lipoprotein lipase (LPL) were …
