Analysis of δf508 mutation in cystic fibrosis pathology specimens

Özgüccedil;, M.; Tekin, A.; Erdem, H.; YILMAZ, EMİNE; Ayter, S.; COŞKUN, TURGAY; CAN, ALP; Gögüscedil;, S.; Çaglar, M.; Kale, G.; Akçouml;ren, Z.

doi:10.3109/15513819409024278

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, Scopus)

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.