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are known to cause familial hypercholesterolaemia.

There are 5 broad classes of mutation of the LDL receptor:

* Class 1 mutations affect the synthesis of the receptor in the endoplasmic reticulum (ER).
* Class 2 mutations prevent proper transport to the Golgi body needed for modifications to the receptor.
**e.g. a truncation of the receptor protein at residue number 660 leads to domains 3,4 and 5 of the EGF precursor domain being missing.

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