Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new event...
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
About this item
Full title
Author / Creator
Férec, Claude , Casals, Teresa , Chuzhanova, Nadia , Macek, Milan , Bienvenu, Thierry , Holubova, Andrea , King, Caitriona , McDevitt, Trudi , Castellani, Carlo , Farrell, Philip M , Sheridan, Molly , Pantaleo, Sarah-Jane , Loumi, Ourida , Messaoud, Taieb , Cuppens, Harry , Torricelli, Francesca , Cutting, Garry R , Williamson, Robert , Ramos, Maria Jesus Alonso , Pignatti, Pier Franco , Raguénès, Odile , Cooper, David N , Audrézet, Marie-Pierre and Chen, Jian-Min
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Gross genomic rearrangements involving deletions in the
CFTR
gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients. Using QMPSF and walking quantitative DHPLC, six novel mutations (three simple deletions, two complex deletions with short insertions of 3–6 bp, and...
Alternative Titles
Full title
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
Authors, Artists and Contributors
Author / Creator
Casals, Teresa
Chuzhanova, Nadia
Macek, Milan
Bienvenu, Thierry
Holubova, Andrea
King, Caitriona
McDevitt, Trudi
Castellani, Carlo
Farrell, Philip M
Sheridan, Molly
Pantaleo, Sarah-Jane
Loumi, Ourida
Messaoud, Taieb
Cuppens, Harry
Torricelli, Francesca
Cutting, Garry R
Williamson, Robert
Ramos, Maria Jesus Alonso
Pignatti, Pier Franco
Raguénès, Odile
Cooper, David N
Audrézet, Marie-Pierre
Chen, Jian-Min
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_67892936
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67892936
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201590
