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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...
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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2017
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| Предметы: | |
| Online-ссылка: | 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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