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Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

Atherosclerosis·1999

Assessment of French patients with LPL deficiency for French Canadian mutations.

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Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.

Clinical science (London, England : 1979)·1997

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.

Human mutation·1997

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

The New England journal of medicine·1996

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Therapeutic advances in gastroenterology·2026

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Acta medica Philippina·2026

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JSES international·2026

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Journal of environmental management·2026

A series of polarity- and viscosity-sensitive AIE fluorescent sprobes with large stokes shifts for cell and zebrafish imaging.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

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Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144.

Assessment of French patients with LPL deficiency for French Canadian mutations.

Compound heterozygote for both rare apolipoprotein E1 (Gly127-->Asp, Arg158-->Cys) and E3(Cys112-->Arg, Arg251-->Gly) alleles in a multigeneration pedigree with hyperlipoproteinaemia.

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