We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations including 24 not reported previously, accounting for 93.56% of CF genes. The most common were F508del (67
Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens
✍ Scribed by Metka Ravnik-Glavač; Michael Dean; Damjan Glavač
- Publisher
- Springer
- Year
- 2000
- Tongue
- English
- Weight
- 316 KB
- Volume
- 439
- Category
- Article
- ISSN
- 0031-6768
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## 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
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