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  •   University of Thessaly Institutional Repository
  • Επιστημονικές Δημοσιεύσεις Μελών ΠΘ (ΕΔΠΘ)
  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ.
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Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?

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Author
Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I.
Date
1999
Keyword
alpha synuclein
adult
article
autosomal dominant disorder
clinical article
familial disease
female
gene mutation
Greece
heterozygote
human
Italy
male
onset age
Parkinson disease
penetrance
priority journal
alpha-Synuclein
DNA Mutational Analysis
Humans
Middle Aged
Mutation
Nerve Tissue Proteins
Pedigree
Phenotype
Synucleins
Metadata display
Abstract
The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to identify the G209A mutation in a sizable series of familial and sporadic cases of PD. The authors present two additional Greek families with ADPD associated with the G209A mutation. In both families, asymptomatic carriers older than the expected age at onset were found.
URI
http://hdl.handle.net/11615/31662
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  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [9728]
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Η δικτυακή πύλη της Ευρωπαϊκής Ένωσης
Ψηφιακή Ελλάδα
ΕΣΠΑ 2007-2013