Analysis of δf508 mutation in cystic fibrosis pathology specimens

Özgüccedil; M., Tekin A., Erdem H., YILMAZ E., Ayter S., COŞKUN T., ...Daha Fazla

Fetal and Pediatric Pathology, cilt.14, sa.3, ss.491-496, 1994 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 3
  • Basım Tarihi: 1994
  • Doi Numarası: 10.3109/15513819409024278
  • Dergi Adı: Fetal and Pediatric Pathology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.491-496
  • Anahtar Kelimeler: Cystic fibrosis, Paraffin blocks, ΔF508
  • Ankara Üniversitesi Adresli: Evet

Özet

Incidence of ΔF508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where ΔF508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.. © 1994 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.