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Novel CFTR gene mutation in a patient with CBAVD

✍ Scribed by Denise L.M. Goh; Youyou Zhou; Samuel S. Chong; Nicola S.P. Ngiam; Daniel Y.T. Goh

Book ID
119288550
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
99 KB
Volume
6
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