Article
Asymptomatic carrier of two CFTR mutations: consequences for prenatal diagnosis?
Prenatal diagnosis - 1 Dec 1993
Verlingue C, David A, Audrezet M P, Le Roux M G, Mercier B, Moisan J P, Ferec C
Abstract excerpt
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...
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