𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A New Insertion/Deletion of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Accounts for 3.4% of Cystic Fibrosis Mutations in Sardinia: Implications for Population Screening

✍ Scribed by Faà, Valeria; Bettoli, Pietro Pellegrini; Demurtas, Maria; Zanda, Maurizio; Ferri, Vincenzina; Cao, Antonio; Rosatelli, Maria Cristina

Book ID
121767122
Publisher
American Society for Investigative Pathology
Year
2006
Tongue
English
Weight
201 KB
Volume
8
Category
Article
ISSN
1525-1578

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Retrospective study of the cystic fibros
Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis
✍ C. Verlingue; B. Mercier; I. Lecoq; M. P. Audrézet; D. Laroche; G. Travert; C. F 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 707 KB

The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a p

A new frameshift mutation 460delG in exo
A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
✍ 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