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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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Bibliografiske detaljer
Udgivet i:Eur J Hum Genet
Main Authors: Jaeken, Jaak, Lefeber, Dirk J., Matthijs, Gert
Format: Artigo
Sprog:Inglês
Udgivet: Springer International Publishing 2019
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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