The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a p
15 Frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in a cohort of consecutive patients candidate for assisted reproductive techniques
β Scribed by M. Rongioletti; F. Papa; M.B. Majolini; C. Vaccarella; I. Simonelli; A. Luciano; P. Pasqualetti; G.M. Liumbruno
- Book ID
- 117799526
- Publisher
- Elsevier Science
- Year
- 2012
- Tongue
- English
- Weight
- 66 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1569-1993
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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
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