## 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
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene
โ Scribed by T. Bienvenu; P. Petitpretz; C. Beldjord; J. C. Kaplan
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 266 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1059-7794
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The mutation described here has been detected in the DNA of a female cystic fibrosis (CF) patient born in May 1963. CF has been diagnosed only at the age of 30 years and has been confirmed by three positive sweat tests. She does not require supplementation with pancreatic enzymes and her pulmonary f