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Detection of large deletions in the LDL receptor gene with quantitative PCR methods
BACKGROUND: Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearrangements account for about 5% of patients with LDL receptor gene mutations. MET...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2005
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1087844/ https://www.ncbi.nlm.nih.gov/pubmed/15842735 http://dx.doi.org/10.1186/1471-2350-6-15 |