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Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
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| Udgivet i: | Eur J Hum Genet |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Springer International Publishing
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6871091/ https://ncbi.nlm.nih.gov/pubmed/31231132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0453-y |
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