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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...
Autores principales: | Boettger, Linda M., Salem, Rany M., Handsaker, Robert E., Peloso, Gina, Kathiresan, Sekar, Hirschhorn, Joel, McCarroll, Steven A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2016
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Materias: | |
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 |
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