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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| Principais autores: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2017-03-01
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| coleção: | Molecular Genetics and Metabolism Reports |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2214426916301112 |
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