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Notes in
10. Cystic Fibrosis
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Published
06/26/2023
introductionCF is an {{c1::autosomal recessive}} disorder caused by mutations of {{c1::both}} alleles of the gene located on chromosome {{c1…
Published
06/26/2023
introduction MC → {{c1::DF508}}, G542X, G551Dincidence → 1:3500 Newborns (whites) About 4-5% whites in north america are carriers of CF…
Published
06/26/2023
4279fa12a2a540ba8b94151e85c87528-oa-1
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06/26/2023
783104c5f72945fc85d88437144970ca-oa-1
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06/26/2023
what is deleted in many pts w/ CF? {{c1::phenylalanine 508}}
Published
06/26/2023
molecular defects of CFTR protein Class I → {{c1::no protein}} → affects protein synthesis, due to nonsense mutation Class II → {{…
Published
06/26/2023
d2141e9351e6496ca6ef9130d8f882db-oa-1
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06/26/2023
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06/26/2023
d2141e9351e6496ca6ef9130d8f882db-oa-3
Published
06/26/2023
diagnosis of CF new born screen → screening test only CF genetics gold standard for diagnosis → {{c1::sweat chloride}}nasal voltag…
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