Article
Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.
Blood cells, molecules & diseases - 1 Feb 2018
Arkadir David, Dinur Tama, Mullin Stephen, Mehta Atul, Baris Hagit N, Alcalay Roy N, Zimran Ari
Abstract excerpt
Heterozygote GBA (glucosylceramidase beta) mutations increase the risk of Parkinson's disease (PD). Data based on the measured frequencies of GBA mutated alleles in the healthy population suggest that severe GBA mutations are associated with even higher risk for PD. These data, however, are prone to methodological biases resulting from the rarity of severe mutations and from ethnic-dependent differences in allele...
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