A robotics-assisted procedure for large scale cystic fibrosis mutation analysis
โ Scribed by Jean M. DeMarchi; C. Sue Richards; Raymond G. Fenwick; Robert Pace; Arthur L. Beaudet
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 846 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
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The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes a cAMP-activated chloride channel, and in individuals with both alleles of the gene mutated, symptoms of CF disease are manifest. With more than 300 mutations so far described in the gene the profile of mutant alleles in a p
## Communicuted by Garry R. Cutting Cystic fibrosis is the most common autosomal recessive disorder in Caucasian populations, with an approximate frequency of 112500 live births and a carrier frequency of 1125. Due to the high rate of predicted carriers (>63,000) in the Nebraska population (1990 U