Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.

Tayebi, N

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. [electronic resource] - Molecular genetics and metabolism Aug 2001 - 313-21 p. digital

Publication Type: Case Reports; Journal Article

1096-7192

10.1006/mgme.2001.3201 doi


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