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
ISSN: 1096-7192
Standard No.: 10.1006/mgme.2001.3201 doi
Subjects--Topical Terms: 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