Editing Cystic Fibrosis
From Iusmgenetics
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***'''NB: 95% of males are infertile''' | ***'''NB: 95% of males are infertile''' | ||
**Integumentary: elevated sweat chloride (salty baby syndrome); >60 mEq / L (60 mmol / l) | **Integumentary: elevated sweat chloride (salty baby syndrome); >60 mEq / L (60 mmol / l) | ||
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====CF in the airway epithelium==== | ====CF in the airway epithelium==== | ||
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*23 mutations are recommended for testing / screening | *23 mutations are recommended for testing / screening | ||
**9 are ''intronic mutations'', (the rest are exonic mutations) 8 are missense, 4 are nonsense, and 2 are in-frame deletions (like deltaF508) | **9 are ''intronic mutations'', (the rest are exonic mutations) 8 are missense, 4 are nonsense, and 2 are in-frame deletions (like deltaF508) | ||
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===Treatment=== | ===Treatment=== |