Article
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene.
Human genetics - 1 Aug 1992
Osborne L, Santis G, Schwarz M, Klinger K, Dörk T, McIntosh I, Schwartz M, Nunes V, Macek M, Reiss J
Abstract excerpt
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America in order to estimate its frequency and to attempt to characterise the clinical manifestations of this mutation. N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Gene Expression
- Haplotypes
- Humans
- Incidence
- Membrane Proteins
- Molecular Sequence Data
- Mutation