Article
A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism.
Neuroscience letters - 28 Jul 2000
Muñoz E, Pastor P, Martí M J, Oliva R, Tolosa E
Abstract excerpt
We have investigated the presence of mutations in the parkin gene in patients with early-onset parkinsonism. Direct sequencing of the polymerase chain reaction (PCR) products showed a homozygous G deletion in the exon 7 (c.871delG) in one patient. This was a 38-year-old Moroccan woman with a history of parkinsonism of 18 years of duration. The disease appeared as an apparently sporadic case and was characterized...
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