Article
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.
The Journal of molecular diagnostics : JMD - 1 Nov 2007
Bareil Corinne, Guittard Caroline, Altieri Jean-Pierre, Templin Carine, Claustres Mireille, des Georges Marie
Abstract excerpt
Available commercial kits only screen for the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations causing classic cystic fibrosis and for the Tn variant in IVS8. However, full scanning of CFTR is needed for the diagnosis of patients with cystic fibrosis or CFTR-related disorders (including congenital bilateral absence of the vas deferens) bearing rare mutations. Standard strategies...
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