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Article

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

Human genetics - 1 Jul 1997

Kotze M J, de Villiers J N, Loubser O, Thiart R, Scholtz C L, Raal F J

Abstract excerpt

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...

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PMID: 9225977
DOI: 10.1007/s004390050473

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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