CF and CBAVD are really just ends of a clinical spectrum. The type and nature of the mutations in the CF gene probably determine the phenotypic expression of the patient. Perhaps all patients homozygous for AF508, for example, will have severe pulmonary and pancreatic disease as well as absent vasa,
Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions
β Scribed by Jennifer L. Fitzpatrick; Elaine M. Hutton; Riyana Babul; Cheryl S. Cytrynbaum; Joanne E. Sutherland; Cheryl T. Shuman
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 946 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1059-7700
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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
## 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