Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Creative Commons License

Bademci G., Lasisi A. O., Yariz K. O., Montenegro P., Menendez I., Vinueza R., ...Daha Fazla

BMC MEDICAL GENETICS, cilt.16, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s12881-015-0149-2
  • Dergi Adı: BMC MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Molecular Diagnosis, Mutation Detection, POU3F4, Sequencing, X-linked deafness, MIXED DEAFNESS, HEARING-LOSS, GENE, PHENOTYPE, PROTEIN, BRAIN-4, SMPX
  • Ankara Üniversitesi Adresli: Evet

Özet

Background: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies.