Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. [electronic resource]
Producer: 20011101Description: 313-21 p. digitalISSN:- 1096-7192
- Alleles
- Blotting, Southern
- Chromosomes, Human, Pair 1 -- genetics
- Crossing Over, Genetic -- genetics
- DNA Mutational Analysis
- Female
- Gaucher Disease -- enzymology
- Genotype
- Glucosylceramidase -- deficiency
- Humans
- In Situ Hybridization, Fluorescence
- Ligases -- genetics
- Male
- Middle Aged
- Mitochondrial Membrane Transport Proteins
- Nerve Tissue Proteins -- genetics
- Parkinson Disease, Secondary -- complications
- Phenotype
- Physical Chromosome Mapping
- Polymorphism, Genetic -- genetics
- Proteins -- genetics
- Pseudogenes -- genetics
- RNA, Messenger -- analysis
- Synucleins
- Ubiquitin-Protein Ligases
No physical items for this record
Publication Type: Case Reports; Journal Article
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