Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels

Two exons of the human haptoglobin (HP) gene exhibit copy number variation that affects HP multimerization and underlies one of the first protein polymorphisms identified in humans. The evolutionary origins and medical significance of this polymorphism have been uncertain. Here we show that this var...

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Detalles Bibliográficos
Autores principales: Boettger, Linda M., Salem, Rany M., Handsaker, Robert E., Peloso, Gina, Kathiresan, Sekar, Hirschhorn, Joel, McCarroll, Steven A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811681/
https://www.ncbi.nlm.nih.gov/pubmed/26901066
http://dx.doi.org/10.1038/ng.3510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811681/
https://www.ncbi.nlm.nih.gov/pubmed/26901066
http://dx.doi.org/10.1038/ng.3510

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