A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
About this item
Full title
Author / Creator
Mercier, B , Lissens, W , Novelli, G , Kalaydjieva, L , de Arce, M , Kapranov, N , Canki Klain, N , Estivill, X , Palacio, A and Cashman, S
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR, having analysed 780 CF chromosomes, and have compa...
Alternative Titles
Full title
A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1050087
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1050087
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.31.9.731
