Parkin dosage mutations in patients with early-onset sporadic and familial Parkinson's disease in Chinese: an independent pathogenic role.

Abstract excerpt

Mutations in the parkin gene have been identified as one of the important genetic factors for the etiology of PD. However, pathogenicities of parkin mutations, especially of those heterozygotes, remain controversial, possibly due to confusions caused by the "mixed" effects of all types of mutations. Here we report a study on the independent effects of exonic deletions/duplications (or dosage mutations) on the...

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