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Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis

✍ Scribed by Teresa Casals; Maria D. Ramos; Javier Giménez; Marga Nadal; Virginia Nunes; Xavier Estivill

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 317 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380110133

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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