A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmem...
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
About this item
Full title
Author / Creator
Bombieri, C. , Giorgi, S. , Carles, S. , de Cid, R. , Belpinati, F. , Tandoi, C. , Pallares-Ruiz, N. , Lazaro, C. , Ciminelli, B.M. , Romey, M.-C. , Casals, T. , Pompei, F. , Gandini, G. , Claustres, M. , Estivill, X. , Pignatti, P.F. and Modiano, G.
Publisher
Heidelberg: Springer
Journal title
Language
English
Formats
Publication information
Publisher
Heidelberg: Springer
Subjects
More information
Scope and Contents
Contents
Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously known disease-causing mutations (threshold) cannot be the cause of that disease. This principle was applied to the analysis of cystic fibrosis transmembrane conductance regulator (CFTR) mutatio...
Alternative Titles
Full title
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_70983019
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70983019
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s004390051025
