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WS8.3 Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in fecal microbiota of cystic fibrosis patients

✍ Scribed by Iebba, V.; Santangelo, F.; De Biase, R.V.; Starnato, A.; Bertasi, S.; Savi, D.; Lucarelli, M.; Conte, M.P.; Schippa, S.; Quattrucci, S.


Book ID
123031034
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
65 KB
Volume
12
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