Variation in which familial hypercholesterolemia-causing gene has also been associated with protection from coronary artery disease and high cholesterol levels in general populations?
The finding that fibroblasts from a patient with X-linked Hurler syndrome could correct the defect in fibroblasts from a patient with autosomal recessive Hurler syndrome (and vice versa) demonstrated what about the two disorders?
If an infant is found to have hyperphenylalaninemia based on a newborn screen, but this defect doesn't respond to a low phenylalanine diet, what type of molecular defect would be suspected?