A novel missense mutation in the UBE2A gene Causes Intellectual Disability in the Large X-Linked Family.

Arslan Satılmış S. B., Kurt E. E., Akçay E. P., Sazci A., Ceylan A. C.

The journal of gene medicine, cilt.23, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1002/jgm.3307
  • Dergi Adı: The journal of gene medicine
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: array comparative genomic hybridization, novel mutation, UBE2A, whole-exome sequencing, X-linked intellectual disability
  • Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet