Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

Koc A., Bora E., Çinleti T., Yıldız G., Torun Bayram M., Giray Bozkaya Ö., ...Daha Fazla

JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES, cilt.3, sa.3, ss.165-169, 2019 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 3 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.30621/jbachs.2019.719
  • Dergi Adı: JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.165-169
  • Anahtar Kelimeler: Alport syndrome, Hereditary Nephritis, COL4A3, COL4A4, COL4A5, DIGENIC INHERITANCE, GUIDELINES, MUTATION
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objectives: We have no series report concerning genetic etiology of Alport Syndrome (AS) in our country. So, we aimed to investigate AS related pathogenic variants of COL4A3, COL4A4 and COL4A5 genes in index cases and their families who referred to our center.