✦ LIBER ✦

Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

✍ Scribed by El-Seedy, Ayman; Dudognon, Tony; Bilan, Frédéric; Pasquet, Marie-Claude; Reboul, Marie-Pierre; Iron, Albert; Kitzis, Alain; Ladeveze, Véronique

Book ID: 122365523
Publisher: American Society for Investigative Pathology
Year: 2009
Tongue: English
Weight: 164 KB
Volume: 11
Category: Article
ISSN: 1525-1578
DOI: 10.2353/jmoldx.2009.090005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Incidence of the CFTR exon 9 and its fla

Incidence of the CFTR exon 9 and its flanking sequence duplication on the mutation diagnosis in CF patients

✍ A. EL-Seedy; T. Dudognon; F. Bilan; M.C. Pasquet; A. Iron; A. Kitzis; V. Ladevez 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 59 KB

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,

493 Clinical manifestations at diagnosis

493 Clinical manifestations at diagnosis: a study of CFTR mutations based on the French Cystic Fibrosis Registry

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 177 KB

Discrimination between recurrent mutatio

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

✍ Jochen Reiss; David N. Cooper; Jerzy Bal; Ryszard Slomski; Garry R. Cutting; Mic 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 583 KB

A total of 75 non-AF508 chromosomes from 59 German cystic fibrosis patients was screened for mutations in exon 11 of the cystic fibrosis (CFTR) gene. These Caucasian patients were found to possess an identical haplotype background for two common mutations (G551D, R553X) constistent with their being

Mutation analysis of ten exons of the CF

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

✍ Emmanuel Kanavakis; Maria Tzetis; Thalia Antoniadi; Joanne Traeger-Synodinos; St 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 295 KB

Identification of Eight Mutations and Th

Identification of Eight Mutations and Three Sequence Variations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

✍ Nada Ghanem; Bruno Costes; Emmanuelle Girodon; Josiane Martin; Pascale Fanen; Mi 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 205 KB