The disease mechanism involved in familial hypercholesterolemia is BEST described as which of the following disease mechanisms?
A. Loss of function mutation B. Gain of function mutation C. Dominant negative mutation D. Novel property mutation E. Ectopic expression 10. Neonatal diabetes is sometimes the result of inheriting two copies of chromosome 6 from one parent and no copies from the other parent (uniparental disomy). You have a patient that you suspect has this disorder and you send blood samples on the patient and both parents to the lab for genotyping using a DNA polymorphic marker on chromosome 6.
