L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis

Rapid characterization of the variable l

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: Association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

✍ Kenneth J. Friedman; Ruth A. Heim; Michael R. Knowles; Lawrence M. Silverman 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB 👁 1 views

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