Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-04

AUTHORS

I. Dorval, S. Odent, P. Jezequel, H. Journel, B. Chauvel, A. Dabadie, M. Roussey, J. Y. Le Gall, B. Le Mareec, V. David, M. Blayau

ABSTRACT

The cystic fibrosis (CF) gene has been cloned and a major mutation identified (ΔF508). This 3-bp deletion has been found in approximately 70% of CF chromosomes. We have used the strategy of denaturing gradient gel electrophoresis followed by direct sequencing of the polymerase chain reaction products, in order to detect other mutations in exons 10, 11 and 20 of the CF transmembrane conductance regulator gene. A new mutation, F1286-S, was found in exon 20. It involves a nucleotide change of T→C at nucleotide 3989 and changes a phenylalanine into serine at position 1286 of the protein. More... »

PAGES

254-256

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00218266

DOI

http://dx.doi.org/10.1007/bf00218266

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010780543

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8097485


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