Rare Heterozygous PCSK1 Variants in Human Obesity: The Contribution of the p.Y181H Variant and a Literature Review

Recently, it was reported that heterozygous PCSK1 variants, causing partial PC1/3 deficiency, result in a significant increased risk for obesity. This effect was almost exclusively generated by the rare p.Y181H (rs145592525, GRCh38.p13 NM_000439.5:c.541T>C) variant, which affects PC1/3 maturation...

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Detalles Bibliográficos
Autores principales: Van Dijck, Evelien, Beckers, Sigri, Diels, Sara, Huybrechts, Tammy, Verrijken, An, Van Hoorenbeeck, Kim, Verhulst, Stijn, Massa, Guy, Van Gaal, Luc, Van Hul, Wim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601648/
https://www.ncbi.nlm.nih.gov/pubmed/36292633
http://dx.doi.org/10.3390/genes13101746

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601648/
https://www.ncbi.nlm.nih.gov/pubmed/36292633
http://dx.doi.org/10.3390/genes13101746

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