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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population

BACKGROUND: Familial hypercholesterolemia (FH) is one of the commonest monogenic disorders, predominantly inherited as an autosomal dominant trait. When untreated, it results in early coronary heart disease. The vast majority of FH remains undiagnosed in Latvia. The identification and early treatmen...

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Publicat a:BMC Med Genet
Autors principals: Radovica-Spalvina, Ilze, Latkovskis, Gustavs, Silamikelis, Ivars, Fridmanis, Davids, Elbere, Ilze, Ventins, Karlis, Ozola, Guna, Erglis, Andrejs, Klovins, Janis
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4587402/
https://ncbi.nlm.nih.gov/pubmed/26415676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0230-x
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