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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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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Lehrman, M A, Russell, D W, Goldstein, J L, Brown, M S
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1986
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC323586/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3012527/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.83.11.3679
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