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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

Anheim, M
Elbaz, A
Lesage, S
Durr, A
Condroyer, C
Viallet, F
Bonaïti, B
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Published in Neurology. 2012, vol. 78, no. 6, p. 417-20
Abstract Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD), is unknown. Our objective was to estimate PD penetrance in a familial study of GBA mutation carriers.
Keywords AdultAgedFemaleGenetic Predisposition to DiseaseGlucosylceramidase/geneticsHumansMaleMiddle AgedMutationParkinson Disease/geneticsPenetrancePhenotype
PMID: 22282650
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Research group Maladie de Parkinson (911)
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ANHEIM, M et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. In: Neurology, 2012, vol. 78, n° 6, p. 417-20. doi: 10.1212/WNL.0b013e318245f476 https://archive-ouverte.unige.ch/unige:33239

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Deposited on : 2014-01-14

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