✦ LIBER ✦

ChemInform Abstract: Combating Cystic Fibrosis: In Search of CF Transmembrane Conductance Regulator (CFTR) Modulators

✍ Scribed by Efrat Noy; Hanoch Senderowitz

Publisher: John Wiley and Sons
Year: 2011
Weight: 18 KB
Volume: 42
Category: Article
ISSN: 0931-7597
DOI: 10.1002/chin.201119257

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Review: 79 refs.

📜 SIMILAR VOLUMES

Combating Cystic Fibrosis: In Search for

Combating Cystic Fibrosis: In Search for CF Transmembrane Conductance Regulator (CFTR) Modulators

✍ Dr. Efrat Noy; Prof. Hanoch Senderowitz 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB

I1269N: A novel mutation in exon 20 of t

I1269N: A novel mutation in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ Tarra L. McDowell; Sue Shackleton; Ann Harris 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 1 views

Identification of three novel mutations

Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients

✍ Thierry Bienvenu; Lilien Chertkoff; Cherif Beldjord; Edgardo Segal; Luis Carnigl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 2 views

A novel nonsense mutation, S434X, in exo

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ H. Mittre; A. Bahlous; N. Leporrier; P. Leymarie 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

A novel nonsense mutation, S434X,

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

Localization studies of rare missense mu

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships

✍ Kristina V. Krasnov; Maria Tzetis; Jie Cheng; William B. Guggino; Garry R. Cutti 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB

## For the Mutation Pathogenicity Special Issue We have been investigating the functional consequences of rare disease-associated amino acid substitutions in the cystic fibrosis transmembrane conductance regulator (CFTR). Mutations of the arginine residue at codon 1070 have been associated with di