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What is meant by “ autosomal dominant” disorder?
An autosomal dominant disorder is a disease caused by a dominant mutant gene on an autosome. Autosomal dominant is one of several ways that a trait or disorder can be passed down through families. If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. One of the parents may often have the disease.
2. Why does the patient with familial hypercholesterolemia develop extremely high levels of low-density lipoprotein cholesterol ( LDLc) in the bloodstream?
A major change in the number or functional status of LDL receptors directly affects serum cholesterol levels...
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