๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

A novel missense mutation, S1159F, in exon 19 of the CFTR gene

โœ Scribed by Hans Hermann Seydewitz; Marcus Mall; Joachim Kuehr


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
10 KB
Volume
15
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A novel missense mutation in exon 16 of
โœ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 106 KB ๐Ÿ‘ 1 views

## 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