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Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

✍ Scribed by Milan Macek Jr.; Ada Hamosh; Sandra Kiesewetter; Iain McIntosh; Beryl J. Rosenstein; Garry R. Cutting

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 152 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010608

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## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null