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- W2183677018 abstract "and hasasingle cytosine deletion inexon26.Thisfameshift mutation wasassociated with thesynthesis ofatruncated apoB protein ofthepredicted size; however, studies inhuman subjects andminigene expression studies incultured cells indicated that themutant allele also yielded afull-length apoB protein. The1-base-pair deletion inthemutant apoBallele created astretch ofeight consecutive adenines. Tounderstand themechanism whereby themutant apoBallele yielded a full-length apoBprotein, thecDNAfromcells transfected with themutant apoBminigene expression vector wasexamined. Splicing ofthemRNAwasnormal; however, 11%ofthecDNA clones hadanadditional adenine within thestretch ofeight adenines, yielding nineconsecutive adenines. Theinsertion of theextra adenine, presumably during apoBgene transcription, ispredicted torestore thecorrect apoBreading frame, thereby permitting thesynthesis ofafull-length apoBprotein. In1979, Steinberg etal. (1)characterized anunusual kindred (the H.J.B. kindred) withasymptomatic familial hypobetalipoproteinemia. Their studies suggested that H.J.B. andtwo ofhissiblings, whohadextremely lowlevels oflowdensity lipoprotein (LDL)cholesterol (<8mg/dl), might behomozygotes forhypobetalipoproteinemia," @default.
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- W2183677018 date "1992-01-01" @default.
- W2183677018 modified "2023-09-26" @default.
- W2183677018 title "Reading-frame restoration withanapolipoprotein B gene frameshift mutation (hypobetapoproteinea/cholesteroI metabolm)" @default.
- W2183677018 hasPublicationYear "1992" @default.
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