★ Patho_Genetics Quiz
Make up the largest category of Mendelian disorders. They occur when both alleles at a given gene locus are mutated.
A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked
D. Y-linked
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Enzyme defect consequence in a1-antitrypsin deficiency
A. Accumulation of the substrate
B. Metabolic block and a decreased amount of end product
C. Failure to inactivate a tissue-damaging substrate
D. Defective transport into cells
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