[Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája].
Sign Up to like & getrecommendations! Published in 2020 at "Orvosi hetilap"
DOI: 10.1556/650.2020.31724
Abstract: The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and… read more here.
Keywords: polg; parkinson mint; parkinsonism; kletes parkinson ... See more keywords
The Y831C Mutation of the POLG Gene in Dementia
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DOI: 10.3390/biomedicines11041172
Abstract: Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and is associated with several clinical… read more here.
Keywords: polg gene; y831c mutation; dementia; mutation ... See more keywords