Congenital bilateral absence of the fifth ray and vaginal atresia
β Scribed by Beneck, Debra ;Becker, Melvin H. ;Genieser, Nancy B. ;Greco, M. Alba ;Opitz, John M. ;Bernstein, Jay
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 280 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly splic
## 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