Article
Multiplex allele-specific fluorescent PCR for haplotyping the IVS8 (TG)m(T)n locus in the CFTR gene.
Clinical chemistry - 1 Sept 2008
Costa Catherine, Costa Jean-Marc, Martin Josiane, Boissier Brigitte, Goossens Michel, Girodon Emmanuelle
Abstract excerpt
BACKGROUND: Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR pathology. The (TG)(m) locus influences the penetrance of the (T)(5) allele, which may be associated with male infertility by congenital bilateral absence of the vas deferens (CBAVD) or other CFTR-related disorders (CFTR-RD), in...
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