PMID: 7513889Dec 1, 1993Paper

Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?

Prenatal Diagnosis
C VerlingueC Ferec

Abstract

The cystic fibrosis (CF) gene has been observed to have the highest frequency of mutations in the Caucasian population. Prenatal diagnosis can now be performed with a high degree of accuracy since the identification of most of the gene's mutations, as well as the characterization of intragenic markers. However, the observation of a distribution of clinical phenotypes increases the need to identify a mild phenotype and avoid false-negative diagnosis. By screening most of the exons of the CFTR gene, we showed that a supposed obligate carrier of CF was in fact an asymptomatic affected woman.

References

Jun 1, 1992·Nature Genetics·C FérecC Verlingue
Dec 5, 1991·The New England Journal of Medicine·T V StrongL C Tsui
Jan 1, 1989·Journal of Inherited Metabolic Disease·D A Gibbs
Oct 1, 1993·Human Molecular Genetics·C FérecB Mercier
Apr 1, 1993·Human Genetics·H GuillermitC Férec
Jan 1, 1993·Human Molecular Genetics·M P AudrézetC Férec

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Citations

Oct 7, 2004·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Chieko AnzaiKunihiko Yoshimura
Aug 4, 2004·BMC Medical Genetics·Mireille ClaustresMarie Des Georges
Jun 19, 2007·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·O LoumiJ P Grangaud
Oct 24, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elizabeth M RohlfsBernice A Allitto
Oct 28, 1999·Archives of Pathology & Laboratory Medicine·W W Grody

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