Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population

Lohmann E., Dursun B., LESAGE S., Hanagasi H. A., Sevinc G., HONORE A., ...Daha Fazla

EUROPEAN JOURNAL OF NEUROLOGY, cilt.19, sa.5, ss.769-775, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 5
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1111/j.1468-1331.2011.03639.x
  • Dergi Adı: EUROPEAN JOURNAL OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.769-775
  • Anahtar Kelimeler: autosomal recessive PD, consanguinity, early-onset PD, mutation, Parkin gene, Parkinson disease (PD), PINK1, Turkey, EARLY-ONSET, MUTATION ANALYSIS, POINT MUTATIONS, PINK1, PARK7
  • İstanbul Üniversitesi Adresli: Evet

Özet

Background and purpose: To evaluate the phenotype and the frequencies of mutations in PRKN, DJ1 and PINK1 genes in patients with Parkinson disease (PD) in Turkey.