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Structural characterization of novel CBAVD-causing mutations located in CFTR NBDs

✍ Scribed by A. Grangeia; A.M. Damas; F. Carvalho; M. Sousa; A. Barras

Book ID
118641497
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
59 KB
Volume
7
Category
Article
ISSN
1569-1993

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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