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...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2017
Onderwerpen:
Short Communication
Online toegang: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
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!

Gelijkaardige items