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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| Опубликовано в:: | Proc Natl Acad Sci U S A |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
National Academy of Sciences
1986
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| Предметы: | |
| Online-ссылка: | 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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