𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene

✍ Scribed by Thierry Bienvenu; Gérard Lenoir; Nuria Fonknechten; François Desclaux-Arramond; Jean Claude Kaplan; Cherif Beldjord


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
271 KB
Volume
3
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A new frameshift mutation 460delG in exo
✍ Klaus Wagner; Petra Schneditz; Walter Rosenkranz 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 2 views

The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f