A new variant in PHKA2 is associated with glycogen storage disease type IXa-Reference-Cited by-同舟云学术

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

Published:2017-03 Issue: Volume:10 Page:52-55
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Rodríguez-Jiménez Carmen,Santos-Simarro Fernando,Campos-Barros Ángel^ORCID,Camarena Carmen,Lledín Dolores,Vallespín Elena,del Pozo Ángela,Mena Rocío,Lapunzina Pablo^ORCID,Rodríguez-Nóvoa Sonia

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference13 articles.

1. Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China;Lau;Mol. Genet. Metab.,2011

2. Glycogen storage diseases;Chen Y-T,2013

3. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans;Maichele;Nat. Genet.,1996

4. Inborn errors of carbohydrate metabolism;Mayatepek;Best Pract. Res. Clin. Gastroenterol.,2010

5. Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis;Johnson;J. Pediatr. Gastroenterol. Nutr.,2012

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