𝔖 Bobbio Scriptorium
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255 Cystic fibrosis mutations and pulmonary phenotype analysis


Book ID
118640383
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
97 KB
Volume
4
Category
Article
ISSN
1569-1993

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✍ Ivy S. L. Ng; Robert Pace; Michael V. Richard; Keiko Kobayashi; Bat-sheva Kerem; πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 583 KB

A large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the delta F508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutatio