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

BURNS, Randi; MAJCZENKO, Karen; XU, Jishu; PENG, Weiping; Yapici, Zühal; DOWLING, James; LI, Jun; BURMEISTER, Margit

doi:10.1212/wnl.0000000000001053

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)

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.