A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

Kotze M.J. ; De Villiers J.N.P. ; Loubser O. ; Thiart R. ; Scholtz C.L. ; Raal F.J. (1997)


Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by using AvaII and PvuII respectively, demonstrated that the two exon 8 mutations are transmitted in cis within the family. The disease phenotype is probably caused by the stop-363 mutation; this would result in a truncated protein that would probably be rapidly degraded in the extracellular space.

Please refer to this item in SUNScholar by using the following persistent URL: http://hdl.handle.net/10019.1/11049
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