Article
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Molecular genetics and metabolism - 1 Aug 2001
Tayebi N, Callahan M, Madike V, Stubblefield B K, Orvisky E, Krasnewich D, Fillano J J, Sidransky E
Abstract excerpt
Among the many phenotypes associated with Gaucher disease, the inherited deficiency of glucocerebrosidase, are reports of patients with parkinsonian symptoms. The basis for this association is unknown, but could be due to alterations in the gene or gene region. The human glucocerebrosidase gene, located on chromosome 1q21, has a nearby pseudogene that shares 96% identity. Immediately adjacent to the...
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