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References

These sources were used to develop the Genetics Home Reference gene summary on the LIPA gene.

Anderson RA, Bryson GM, Parks JS. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol Genet Metab. 1999 Nov;68(3):333-45. PubMed citation
Anderson RA, Byrum RS, Coates PM, Sando GN. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2718-22. PubMed citation
Anderson RA, Rao N, Byrum RS, Rothschild CB, Bowden DW, Hayworth R, Pettenati M. In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. Genomics. 1993 Jan;15(1):245-7. PubMed citation
Aslanidis C, Klima H, Lackner KJ, Schmitz G. Genomic organization of the human lysosomal acid lipase gene (LIPA). Genomics. 1994 Mar 15;20(2):329-31. PubMed citation
Entrez Gene
Mayatepek E, Seedorf U, Wiebusch H, Lenhartz H, Assmann G. Fatal genetic defect causing Wolman disease. J Inherit Metab Dis. 1999 Feb;22(1):93-4. PubMed citation
Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina AB, Ruotolo G, Rabusin M, Baralle FE. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. J Lipid Res. 1998 Jul;39(7):1382-8. PubMed citation
Zschenker O, Jung N, Rethmeier J, Trautwein S, Hertel S, Zeigler M, Ameis D. Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. J Lipid Res. 2001 Jul;42(7):1033-40. PubMed citation