A new variant in PHKA2 is associated with glycogen storage disease type IXa

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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Bibliographic Details
Main Authors: Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Format: Article
Language:English
Published: Elsevier 2017-03-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916301112

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