scholarly journals Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

2007 ◽  
Vol 22 (5) ◽  
pp. 1285-1291 ◽  
Author(s):  
Ilham Ratbi ◽  
Marie Legendre ◽  
Florence Niel ◽  
Josiane Martin ◽  
Jean-Claude Soufir ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Counselling ◽  
Vas Deferens ◽  
Mutation Spectrum ◽  
Cftr Gene ◽  
Gene Rearrangements ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Bilateral Absence ◽  
Cystic Fibrosis Transmembrane

scholarly journals Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

2007 ◽  
Vol 9 (5) ◽  
pp. 582-588 ◽  
Author(s):  
Corinne Bareil ◽  
Caroline Guittard ◽  
Jean-Pierre Altieri ◽  
Carine Templin ◽  
Mireille Claustres ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Bilateral Absence ◽  
Cystic Fibrosis Transmembrane
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