Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
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2. Immunochemical characterization of two activator proteins stimulating enzymatic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant;Christomanou;Biol. Chem. Hoppe Seyler,1986
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4. Expression of functional acid β-glucosidase in COS-1 and Spodoptera frugiperda cells;Grabowski;Enzyme,1989
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1. The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines;Human Molecular Genetics;2022-09-20
2. GBA Variants and Parkinson Disease: Mechanisms and Treatments;Cells;2022-04-08
3. El estudio de la correlación entre el genotipo y el fenotipo: ¿éxito o fracaso?;Revista Clínica Española;2017-01
4. Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz;Molecular Genetics and Metabolism Reports;2016-12
5. Association ofGBAMutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease;JAMA Neurology;2016-10-01
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