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,
β¦ LIBER β¦
Cystic fibrosis and absence of vas deferens
β Scribed by George D. Kornitzer; Robert A. Newton
- Book ID
- 119042769
- Publisher
- Elsevier Science
- Year
- 1975
- Tongue
- English
- Weight
- 123 KB
- Volume
- 5
- Category
- Article
- ISSN
- 0090-4295
No coin nor oath required. For personal study only.
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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