ANALYSIS DELTA-F508 MUTATION IN CYSTIC-FIBROSIS PATHOLOGY SPECIMENS

OZGUC M., TEKIN A., ERDEM H., YILMAZ E., AYTER S., COSKUN T., ...Daha Fazla

PEDIATRIC PATHOLOGY, cilt.14, sa.3, ss.491-496, 1994 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 3
  • Basım Tarihi: 1994
  • Dergi Adı: PEDIATRIC PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.491-496
  • Anahtar Kelimeler: CYSTIC FIBROSIS, DELTA-F508, PARAFFIN BLOCKS, POLYMERASE CHAIN-REACTION, COMMON MUTATION, DISEASE, DNA
  • Ankara Üniversitesi Adresli: Evet

Özet

Incidence of DELTAF508, 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 DELTAF508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.