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...

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Detalles Bibliográficos
Autores principales: Waluś-Miarka, Małgorzata, Sanak, Marek, Idzior-Waluś, Barbara, Miarka, Przemysław, Witek, Przemysław, Małecki, Maciej T., Czarnecka, Danuta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
Article
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

Internet

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

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