## 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
β¦ LIBER β¦
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult
β Scribed by Marie-Catherine Romey; Marie Desgeorges; Patrice Ray; Philippe Godard; Jacques Demaille; Mireille Claustres
- Book ID
- 102260988
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 174 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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