CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

Miguel Chillón, Teresa Casals, Bernard Mercier et al. · New England Journal of Medicine · 1995 · 967 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Julian Zielenski, Richard Rozmahel, Dominique Bozon et al. · Genomics · 1991 · 547 citations

Life Sciences, Genetics, Molecular Genetics +13

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

Chin-Shyan Chu, Bruce C. Trapnell, S M Curristin et al. · Nature Genetics · 1993 · 518 citations

Life Sciences, Genetics, Molecular Genetics +13

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

A. Anguiano · JAMA · 1992 · 459 citations

Life Sciences, Genetics, Molecular Genetics +15