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See Latest ArticlesClinically reported reterozygous mutations in the PINK1 kinase domain exert a gene dosage effect
Human Mutation, 11/02/09
Tan EK et al. – The authors provided the first experimental evidence that clinically reported PINK1 heterozygous mutations exert a gene dosage effect, suggesting that haploinsufficiency of PINK1 is the most likely mechanism that increased the susceptibility to dopaminergic cellular loss.
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