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

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dc.contributor.authorKotze M.J.
dc.contributor.authorDe Villiers J.N.P.
dc.contributor.authorLoubser O.
dc.contributor.authorThiart R.
dc.contributor.authorScholtz C.L.
dc.contributor.authorRaal F.J.
dc.date.accessioned2011-05-15T15:59:12Z
dc.date.available2011-05-15T15:59:12Z
dc.date.issued1997
dc.description.abstractTwo 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.
dc.description.versionArticle
dc.identifier.citationHuman Genetics
dc.identifier.citation100
dc.identifier.citation1
dc.identifier.issn3406717
dc.identifier.other10.1007/s004390050473
dc.identifier.urihttp://hdl.handle.net/10019.1/11049
dc.subjectlow density lipoprotein receptor
dc.subjectarticle
dc.subjectcyprus
dc.subjectfamilial hypercholesterolemia
dc.subjectfemale
dc.subjectgene mutation
dc.subjectheterozygote
dc.subjecthuman
dc.subjectpriority journal
dc.subjectreceptor gene
dc.subjectrestriction mapping
dc.subjectstop codon
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAlleles
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectCyprus
dc.subjectDeoxyribonucleases, Type II Site-Specific
dc.subjectExons
dc.subjectFemale
dc.subjectHaplotypes
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectHyperlipoproteinemia Type II
dc.subjectMale
dc.subjectPedigree
dc.subjectPoint Mutation
dc.subjectReceptors, LDL
dc.titleA double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
dc.typeArticle
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