Screening for mutations in exon 4: Of the LDL receptor gene: Identification of a new deletion mutation

Simple item page
dc.contributor.authorTheart L.
dc.contributor.authorKotze M.J.
dc.contributor.authorLangenhoven E.
dc.contributor.authorLoubser O.
dc.contributor.authorPeeters A.V.
dc.contributor.authorLintott C.J.
dc.contributor.authorScott R.S.
dc.date.accessioned2011-05-15T16:03:35Z
dc.date.available2011-05-15T16:03:35Z
dc.date.issued1995
dc.description.abstractDNA from 14 unrelated New Zealand familial hypercholesterolaemia (FH) heterozygotes, originating from the United Kingdom, was screened for mutations in exon 4 of the low density lipoprotein receptor (LDLR) gene. One patient was heterozygous for mutation D206E, which was initially identified in South Africa. The chromosomal background of this mutant allele was compatible with that described previously in Afrikaner and English patients, suggesting that this mutation originated in the United Kingdom. The 2bp deletion in codon 206 and mutations D154N and D200G, previously reported in English FH patients, were not detected in this sample. In one of the patients, however, a new deletion of 7 bp was identified after nucleotide 581 (or 582) in exon 4 of the LDLR gene.
dc.description.versionArticle
dc.identifier.citationJournal of Medical Genetics
dc.identifier.citation32
dc.identifier.citation5
dc.identifier.issn222593
dc.identifier.urihttp://hdl.handle.net/10019.1/12691
dc.subjectlow density lipoprotein receptor
dc.subjectadult
dc.subjectaged
dc.subjectarticle
dc.subjectclinical article
dc.subjectcodon
dc.subjectdeletion mutant
dc.subjectexon
dc.subjectfamilial hypercholesterolemia
dc.subjectfemale
dc.subjectgenetic screening
dc.subjectheterozygote
dc.subjecthuman
dc.subjecthuman cell
dc.subjectmale
dc.subjectnew zealand
dc.subjectpriority journal
dc.subjectreceptor gene
dc.subjectsouth africa
dc.subjectunited kingdom
dc.subjectAdult
dc.subjectAged
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectDNA Probes
dc.subjectExons
dc.subjectFemale
dc.subjectGenes, Dominant
dc.subjectGenotype
dc.subjectHuman
dc.subjectHypercholesterolemia, Familial
dc.subjectMale
dc.subjectMiddle Age
dc.subjectMolecular Sequence Data
dc.subjectMutation
dc.subjectNew Zealand
dc.subjectNucleic Acid Heteroduplexes
dc.subjectReceptors, LDL
dc.subjectSequence Deletion
dc.subjectSupport, Non-U.S. Gov't
dc.titleScreening for mutations in exon 4: Of the LDL receptor gene: Identification of a new deletion mutation
dc.typeArticle
Files
Collections
Stellenbosch University - Scopus Publications