Published on Dec 18, 2020
Reinforce !

A note on Familial hypercholesterolemia - I am sure you must have read more about it in biochems

There are 5 major classes of mutation.

Class I: no LDL receptor synthesis
Class II: defect in transport out of the endoplasmic reticulum
Class III: defect in LDL receptor binding
Class IV: defect in ability to internalize bound LDL
Class V: defect in the recycling of the LDL receptor 

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