Concepedia

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Elizabeth M. Rohlfs, Zhaoqing Zhou, Elaine A. Sugarman, Ruth A. Heim, Rhonda G. Pace, Michael R. Knowles, Lawrence M. Silverman, Bernice A. Allitto

Genetics in Medicine · 2002 · 81 citations · 22 references

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22

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

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Genetic determination of exocrine pancreatic function in cystic fibrosis.

Peter Kristidis, Dominique Bozon, Mary Corey et al. · PubMed · 1992 · 446 citations

, , +16

A mutation in CFTR produces different phenotypes depending on chromosomal background

Sandra Kiesewetter, Milan Maçek, Claire Davis et al. · Nature Genetics · 1993 · 442 citations

, , +12

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

Michael Dean, Marga Belle White, Jean Amos et al. · Cell · 1990 · 348 citations

, , +11

Population variation of common cystic fibrosis mutations

Human Mutation · 1994 · 312 citations

, , +14