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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Detalles Bibliográficos
Autores principales: Komarova, Tatiana Yu, Korneva, Victoria A, Kuznetsova, Tatiana Yu, Golovina, Alexandra S, Vasilyev, Vadim B, Mandelshtam, Michail Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877960/
https://www.ncbi.nlm.nih.gov/pubmed/24373485
http://dx.doi.org/10.1186/1471-2350-14-128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877960/
https://www.ncbi.nlm.nih.gov/pubmed/24373485
http://dx.doi.org/10.1186/1471-2350-14-128

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