Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

Among patients with familial hypercholesterolemia, half of the mutant alleles at the low density lipoprotein (LDL) receptor locus produce no immunologically detectable protein. To determine the molecular basis for one such null allele, we have cloned an abnormally short restriction fragment from the...

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Bibliographische Detailangaben
Hauptverfasser: Lehrman, M A, Russell, D W, Goldstein, J L, Brown, M S
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1986
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC323586/
https://ncbi.nlm.nih.gov/pubmed/3012527
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