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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Detaylı Bibliyografya

Yayımlandı:	Proc Natl Acad Sci U S A
Asıl Yazarlar:	Lehrman, M A, Russell, D W, Goldstein, J L, Brown, M S
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	National Academy of Sciences 1986
Konular:	Research Article
Online Erişim:	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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