Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients
β Scribed by Thierry Bienvenu; Lilien Chertkoff; Cherif Beldjord; Edgardo Segal; Luis Carniglia; Cristina Barreiro; Jean-Claude Kaplan
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 219 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1059-7794
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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
A novel nonsense mutation, S434X,
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