Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

TARKAN Ö., SARI P., DEMİRHAN O., KIROĞLU M. M., TUNCER Ü., SÜRMELİOĞLU Ö., ...Daha Fazla

JOURNAL OF LARYNGOLOGY AND OTOLOGY, cilt.127, sa.1, ss.33-37, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 127 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1017/s0022215112002587
  • Dergi Adı: JOURNAL OF LARYNGOLOGY AND OTOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.33-37
  • Çukurova Üniversitesi Adresli: Evet

Özet

Objective: Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.