Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative Lysosomal Storage Disorder

Author:

Sleat David E.,Gin Rosalie M.,Sohar Istvan,Wisniewski Krystyna,Sklower-Brooks Susan,Pullarkat Raju K.,Palmer David N.,Lerner Terry J.,Boustany Rose-Mary,Uldall Peter,Siakotos Aristotle N.,Donnelly Robert J.,Lobel Peter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

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3. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S;Das;J Clin Invest,1998

4. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man;D'Azzo;Proc Natl Acad Sci USA,1982

5. Post-translational processing and intracellular transport of newly synthesized lysosomal enzymes;Gabel,1993

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