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, ss.2175-2182, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 83 Konu: 23
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1212/wnl.0000000000001053
  • Dergi Adı: NEUROLOGY
  • Sayfa Sayıları: ss.2175-2182

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.