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Complex mutation 4114 ATA → TT in Exon 22 of the cystic fibrosis gene CFTR

✍ Scribed by Thilo Dörk; Rainer Fislage; Burkhard Tümmler

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 232 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020611

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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