Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum

BACKGROUND: Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied, which allows both elucidating prevalent mutations and developing DNA diagnosti...

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Hlavní autoři: Komarova, Tatiana Yu, Korneva, Victoria A, Kuznetsova, Tatiana Yu, Golovina, Alexandra S, Vasilyev, Vadim B, Mandelshtam, Michail Yu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3877960/
https://ncbi.nlm.nih.gov/pubmed/24373485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-128
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