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6. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase. Blanz J; Groth J; Zachos C; Wehling C; Saftig P; Schwake M Hum Mol Genet; 2010 Feb; 19(4):563-72. PubMed ID: 19933215 [TBL] [Abstract][Full Text] [Related]
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11. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. Guerrero-López R; García-Ruiz PJ; Giráldez BG; Durán-Herrera C; Querol-Pascual MR; Ramírez-Moreno JM; Más S; Serratosa JM Mov Disord; 2012 Dec; 27(14):1826-7. PubMed ID: 23225201 [No Abstract] [Full Text] [Related]
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