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- W1488871390 abstract "In this chapter we use the relatively common genetic disease cystic fibrosis (CF) to illustrate many of the concepts covered in the book. CF is inherited in a simple recessive manner. Molecular genetics isolated the CFTR gene and electrical measurements showed the CFTR protein to be a plasma membrane chloride channel. Studies of patients' genes showed that the symptoms sometimes arise through a simple failure to synthesize a functional protein but most often are due to a failure to traffic the protein to the plasma membrane. Knowledge of the gene has allowed diagnostic tests for CF in fetuses and may lead in the future to gene therapy for patients." @default.
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- W1488871390 date "2003-11-14" @default.
- W1488871390 modified "2023-10-17" @default.
- W1488871390 title "Case Study: Cystic Fibrosis" @default.
- W1488871390 doi "https://doi.org/10.1002/047146158x.ch20" @default.
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