Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

BURNS R., MAJCZENKO K., XU J., PENG W., Yapici Z., DOWLING J. J., ...Daha Fazla

NEUROLOGY, cilt.83, sa.23, ss.2175-2182, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 83 Sayı: 23
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1212/wnl.0000000000001053
  • Dergi Adı: NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.2175-2182
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: To elucidate the genetic cause of a rare recessive ataxia presented by 2 siblings from a consanguineous Turkish family with a nonprogressive, congenital ataxia with mental retardation of unknown etiology.