Article
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Human mutation - 1 Oct 2004
Hering Robert, Strauss Karsten M, Tao Xiao, Bauer Andreas, Woitalla Dirk, Mietz Eva-Maria, Petrovic Slobodanka, Bauer Peter, Schaible Wilhelm, Müller Thomas, Schöls Ludger, Klein Christine, Berg Daniela, Meyer Philipp T, Schulz Jörg B, Wollnik Bernd, Tong Liang, Krüger Rejko, Riess Olaf
Abstract excerpt
Mutations in the parkin gene have been identified as a common cause of autosomal recessive inherited Parkinson disease (PD) associated with early disease manifestation. However, based on linkage data, mutations in other genes contribute to the genetic heterogeneity of early-onset PD (EOPD). Recently, two mutations in the DJ1 gene were described as a second cause of autosomal recessive EOPD (PARK7). Analyzing the...
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