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A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland
The purpose of this investigation was to characterize a new mutation in the LDL-receptor (LDLR) gene in three families with clinically diagnosed familial hypercholesterolemia (FH) from the South-Eastern part of Poland. Mutational screening with exon by exon sequencing analysis was performed in all p...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3310989/ https://www.ncbi.nlm.nih.gov/pubmed/22160468 http://dx.doi.org/10.1007/s11033-011-1314-0 |