Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals

BACKGROUND: The concentrations of the highly atherogenic lipoprotein(a) [Lp(a)] are mainly genetically determined by the LPA gene locus. However, up to 70% of the coding sequence is located in the complex so-called kringle IV type 2 (KIV-2) copy number variation, a region hardly accessible by common...

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Dettagli Bibliografici
Pubblicato in:Genome Med
Autori principali: Di Maio, Silvia, Grüneis, Rebecca, Streiter, Gertraud, Lamina, Claudia, Maglione, Manuel, Schoenherr, Sebastian, Öfner, Dietmar, Thorand, Barbara, Peters, Annette, Eckardt, Kai-Uwe, Köttgen, Anna, Kronenberg, Florian, Coassin, Stefan
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7442989/
https://ncbi.nlm.nih.gov/pubmed/32825847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00771-0
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