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Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East AsianCFTR mutations

✍ Scribed by Wong, Lee-Jun C. ;Alper, �zg�l M. ;Wang, Bao-Tyan ;Lee, Mei-Hui ;Lo, Shin-Yu

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 50 KB
Volume: 120A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20039

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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