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A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

✍ Scribed by H. Mittre; A. Bahlous; N. Leporrier; P. Leymarie


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
9 KB
Volume
14
Category
Article
ISSN
1059-7794

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✦ Synopsis


A novel nonsense mutation, S434X,


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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