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...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea: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
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares