Article
Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Human mutation - 1 Jan 1995
Zielenski J, Markiewicz D, Chen H S, Schappert K, Seller A, Durie P, Corey M, Tsui L C
Abstract excerpt
Six new mutations have been identified in the CFTR gene. These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. All these mutations are probably rare in the population, as no additional examples were found for any...
Topics
- Adult
- Base Sequence
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA Mutational Analysis
- DNA, Single-Stranded
- Exons
- Female