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Genomic variations of the mevalonate pathway in porokeratosis
Porokeratosis (PK) is a heterogeneous group of keratinization disorders. No causal genes except MVK have been identified, even though the disease was linked to several genomic loci. Here, we performed massively parallel sequencing and exonic CNV screening of 12 isoprenoid genes in 134 index PK patie...
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| Veröffentlicht in: | eLife |
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
eLife Sciences Publications, Ltd
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4511816/ https://ncbi.nlm.nih.gov/pubmed/26202976 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.06322 |
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