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Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient

✍ Scribed by Laurent Gouya; Olivier Pascaud; Anne Munck; Jacques Elion; Erick Denamur


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
86 KB
Volume
10
Category
Article
ISSN
1059-7794

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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