Functional analysis of 11 novel GBA alleles

Author:

Malini Erika,Grossi Serena,Deganuto Marta,Rosano Camillo,Parini Rossella,Dominisini Silvia,Cariati Roberta,Zampieri Stefania,Bembi Bruno,Filocamo Mirella,Dardis Andrea

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference28 articles.

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2. Horowitz M, Wilder S, Horowitz Z : The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989; 4: 87–96.

3. Stenson PD, Ball EV, Mort M et al: Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577–581.

4. Erickson AH, Ginns EI, Barranger JA : Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 1985; 260: 14319–14324.

5. Reczek D, Schwake M, Schröder J et al: LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 2007; 131: 770–783.

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