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Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene

✍ Scribed by C. Arduino; M. Ferrone; A. Brusco; S. Garnerone; D. Fontana; L. Rolle; AO Carbonara


Book ID
110887762
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
360 KB
Volume
53
Category
Article
ISSN
0009-9163

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πŸ“œ SIMILAR VOLUMES


A T3 allele in the CFTR gene exacerbates
✍ Antoine Disset; Carine Michot; Ann Harris; Emanuele Buratti; Mireille Claustres; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 425 KB

## Communicated by Garry Cutting The different alleles at the (TG)m(T)n polymorphic loci at the 3 0 end of the human CFTR intron 8 determine the efficiency by which exon 9 is spliced. We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries

Analysis of the whole CFTR coding region
✍ Jean-Francois Culard; Marie Desgeorges; Pierre Costa; Maguelone Laussel; Gaby Ra πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 304 KB

Several recent studies have demonstrated the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in healthy males with infertility caused by congenital absence of the vas deferens (CBAVD), previously recognized as an idiopathic genetic condition distinct from