✦ LIBER ✦

Molecular characterization of a frameshift mutation in exon 19 of the CFTR gene

✍ Scribed by Federica Sangiuolo; Stefania Lo Cicero; Patrizia Maceratesi; Serena Quattrucci; Giuseppe Novelli; B. Dallapiccola

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 276 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020517

No coin nor oath required. For personal study only.

✦ Synopsis

The cystic fibrosis transmembrane conductance regulator (CFTR) is

📜 SIMILAR VOLUMES

Novel frameshift mutation in exon 4 of C

Novel frameshift mutation in exon 4 of CFTR gene

✍ T. Ivaschenko; M. Bakay; V. Baranov 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views

## Communicated by Michel Coossens Cystic fibrosis (CF) is a common recessive lethal genetic disorder caused by various mutations in the

Identification of a new frameshift mutat

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

✍ Thierry Bienvenu; Gérard Lenoir; Nuria Fonknechten; François Desclaux-Arramond; 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 271 KB 👁 1 views

A novel frameshift mutation, c.1870delG,

A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene

✍ Hans Hermann Seydewitz; Tanja Gonska; Marcus Mall; Joachim Kueh 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

A novel missense mutation, S1159F, in ex

A novel missense mutation, S1159F, in exon 19 of the CFTR gene

✍ Hans Hermann Seydewitz; Marcus Mall; Joachim Kuehr 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 3 views

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

A novel frameshift mutation (1651ins5) i

A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a ΔF508 mutation

✍ Gino Delaere; Karel Stuer; Katrien Storm; Patrick J. Willems; Wim Van Hul 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views