Article
Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells.
Human molecular genetics - 1 Jul 1994
Hull J, Shackleton S, Harris A
Abstract excerpt
Ten to fifteen percent of CF chromosomes carry mutations which are not detected by routine screening of the CFTR gene for known mutations. Many techniques have been used to screen the CFTR gene for these remaining mutations. Most of the methods use genomic DNA, and since the CFTR gene contains 27...
Topics
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA, Complementary
- Epithelial Cells
- Epithelium
- Genetic Testing
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nasal Mucosa
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger