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A new variant in PHKA2 is associated with glycogen storage disease type IXa
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously unde...
שמור ב:
| הוצא לאור ב: | Mol Genet Metab Rep |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5233919/ https://ncbi.nlm.nih.gov/pubmed/28116244 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.01.003 |
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