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A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).

Clinical genetics - 1 Aug 1996

Wiebusch H, Muntoni S, Funke H, Lu F, Seedorf U, Oberle S, Schwarzer U, Assmann G

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PMID: 8937772

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A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD).PMID 8937772Read ↗

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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.Semantic proximity Read ↗

Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.Semantic proximity Read ↗

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.Semantic proximity Read ↗

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Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6Semantic proximity Read ↗

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Lysosomal acid lipase A and the hypercholesterolaemic phenotype.Semantic proximity Read ↗

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