The CFTR intron 8 variable length polythymidine tract modulates the cystic fibrosis (CF) phenotype associated with the mutation R117H. To explore whether other mutations reside on multiple intron 8 backgrounds with discernible impacts on phenotype, we developed an allele-specific PCR assay to charac
✦ LIBER ✦
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms
✍ Scribed by Marie-Pierre Audrézet; Jian-Min Chen; Odile Raguénès; Nadia Chuzhanova; Karine Giteau; Cédric Le Maréchal; Isabelle Quéré; David N. Cooper; Claude Férec
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 537 KB
- Volume
- 23
- Category
- Article
- ISSN
- 1059-7794
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