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...
Guardado en:
| Publicado en: | Proc Natl Acad Sci U S A |
|---|---|
| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
National Academy of Sciences
1986
|
| Materias: | |
| Acceso en línea: | 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 |
| Etiquetas: |
Sin Etiquetas, Sea el primero en etiquetar este registro!
|