Influence of the Duplication of CFTR Exon 9 and Its Flanking Sequences on Diagnosis of Cystic Fibrosis Mutations

Basic local alignment search tool

Stephen F. Altschul, Warren Gish, Webb Miller et al. · Journal of Molecular Biology · 1990 · 94.5K citations

Life Sciences, Bioinformatics, Sequence Analysis +3

Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA

John R. Riordan, Johanna M. Rommens, Bat-Sheva Kerem et al. · Science · 1989 · 7.4K citations

Life Sciences, Genetics, Molecular Genetics +12

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

Marco Montagna · Human Molecular Genetics · 2003 · 186 citations · Full text

Life Sciences, Genetics, Oncology +15

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling

Cédric Le Maréchal, M.‐P. Audrézet, I. Quéré et al. · Human Genetics · 2001 · 133 citations

Life Sciences, Genetics, Molecular Genetics +13

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance

Theresa V. Strong, Daniel J. Wilkinson, Monique K. Monsoura et al. · Human Molecular Genetics · 1993 · 100 citations

Life Sciences, Genetics, Molecular Biology +11