New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. [electronic resource]

By:

Pagani, F

Contributor(s):

Pariyarath, R
Garcia, R
Stuani, C
Burlina, A B
Ruotolo, G
Rabusin, M
Baralle, F E

Producer: 19981014Description: 1382-8 p. digitalISSN:

0022-2275

Subject(s):

Amino Acid Substitution
Base Sequence
Child
Cholesterol Ester Storage Disease -- enzymology
Exons
Female
Genetic Variation
Humans
Infant
Lipase -- genetics
Lysosomes -- enzymology
Male
Phenotype
Point Mutation
Polymerase Chain Reaction
Sequence Deletion
Wolman Disease -- enzymology

In: Journal of lipid research vol. 39

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New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.

APA

Pagani F., Pariyarath R., Garcia R., Stuani C., Burlina A. B., Ruotolo G., Rabusin M. & Baralle F. E. (19981014). New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. : Journal of lipid research.

Chicago

Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina A B, Ruotolo G, Rabusin M and Baralle F E. 19981014. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. : Journal of lipid research.

Harvard

Pagani F., Pariyarath R., Garcia R., Stuani C., Burlina A. B., Ruotolo G., Rabusin M. and Baralle F. E. (19981014). New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. : Journal of lipid research.

MLA

Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina A B, Ruotolo G, Rabusin M and Baralle F E. New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. : Journal of lipid research. 19981014.

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