Bağlantı ve Tüm Ekzom Dizileme Analizlerinin Birlikte Değerlendirilmesiyle CIC Geninin İzole Distoni Adayı Olarak Belirlenmesi


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Salman B., YÜCESAN E., SAMANCI B., BİLGİÇ B., HANAĞASI H. A. , GÜRVİT İ. H. , ...More

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.84, pp.457-463, 2021 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 84
  • Publication Date: 2021
  • Doi Number: 10.26650/iuitfd.2021.913346
  • Title of Journal : JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Page Numbers: pp.457-463
  • Keywords: Autosomal recessive dystonia, whole genome genotyping, linkage analysis, whole exome sequencing, alternative splicing, PHENOTYPES, MUTATIONS, DIAGNOSIS, VARIANTS

Abstract

Objective: To explore the underlying genetic variations and mechanisms in a family affected by isolated dystonia.