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A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of croatian origin

✍ Scribed by Lidija Petreska; Dijana Plašeska; Svetlana Kočeva; Ana Stavljenić-Rukavina; Georgi Dimitar Efremov


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
212 KB
Volume
7
Category
Article
ISSN
1059-7794

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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