Search

Your search keyword '"Markiewicz, D."' showing total 4 results
Start Over Author "Markiewicz, D." Journal human mutation
4 results on '"Markiewicz, D."'

4. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Author

Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, and Tsui LC

Subjects
Adult, Base Sequence, Child, Child, Preschool, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, DNA, Single-Stranded chemistry, DNA, Single-Stranded genetics, Exons, Female, Frameshift Mutation, Humans, Introns, Male, Molecular Sequence Data, Nucleic Acid Conformation, Polymorphism, Genetic, Sequence Deletion, Cystic Fibrosis genetics, Membrane Proteins genetics, Mutation
Abstract

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 of them in a cohort of 545 CF patients. Our study also revealed a benign sequence variation (3499 + 45T-->C) in intron 17b.

Published
1995
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results