Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

YÜCESAN E., Goncu B. S., Aslanger A., Ozgul C., Hasanoglu S., Yesil G.

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.28, sa.SUPPL 1, ss.344-345, 2020 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Özet
  • Cilt numarası: 28 Sayı: SUPPL 1
  • Basım Tarihi: 2020
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.344-345
  • İstanbul Üniversitesi Adresli: Evet