Concepedia

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals, L. Bassas, Xavier Estivill, Marie des Georges, Caroline Guittard, Monika Koudová, M. Daniele Fallin, Krisztína Németh,

The American Journal of Human Genetics · 2004 · 251 citations · 8 references

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References

8

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

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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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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

Harry Cuppens, Wen‐chang Lin, Martine Jaspers et al. · Journal of Clinical Investigation · 1998 · 392 citations · Full text

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A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

Timothy Hefferon, Joshua D. Groman, Catherine E. Yurk et al. · Proceedings of the National Academy of Sciences · 2004 · 161 citations · Full text

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Functional Analysis of cis-Acting Elements Regulating the Alternative Splicing of Human CFTR Exon 9

Miomir Nikšić, Maurizio Romano, Emanuele Buratti et al. · Human Molecular Genetics · 1999 · 150 citations · Full text

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