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13 Cards in this Set
- Front
- Back
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full term neonates normal at birth becomes mentally retarded and hyperactive within days and have musty sweats
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phenylketouria
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alcoholic becomes hypoglycemic, why?
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ethanol increases NADH, shunting pyruvate and oxaloacetate to lactate and malate, inhibiting gluconeogenesis
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black urine and black spots in sclera
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alkaptonuria
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chest pain and xanthomas in Achilles tendon
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LDL receptor defect in familial hypercholesterolemia
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infant with failure to thrive and big tummy, brittle hair and skin depigmentation
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Kwashiorkor
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alcoholic develop rash diarrhea and altered mental status
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pellagra, vit b3 deficiency
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how many histones and what are they?
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H1+2xH2A+2x2B+2xH3+2xH4 = 9, to make heterochromatine, inactive transcriptionally
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purine components
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aspartate, glycine, CO2, N10-FTHF, and glutamine
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pyrimidine components
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aspartate and carbamoyl phosphate
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transition is?
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substitute a purine by another purine
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transversion is?
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substitute a purine by a pyrimidine or vice versa
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DNA profreading/
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DNA polymerase III has 5 to 3 synthesis and proofreading at 3 (exonuclease 3 to 5) while DNA polymerase I excise at 5 to remove RNA primer (exonuclease 5 to 3)
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what drug inhibit RNA polymerase 2, what's the consequence
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alpha-amanitin, inhibit mRNA synthesis
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