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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Short Communication
Accés en línia: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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