Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations
β Scribed by Bernardino, A. L. F.; Ferri, A.; Passos-Bueno, M. R.; Kim, C. E. A.; Nakaie, C. M. A.; Gomes, C. E. T.; Damaceno, N.; Zatz, M.
- Book ID
- 120401340
- Publisher
- Mary Ann Liebert
- Year
- 2000
- Tongue
- English
- Weight
- 263 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1090-6576
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We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from AF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a
We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation β¬F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot