Liver Glycogenosis Due to Phosphorylase Kinase Deficiency: PHKG2 Gene Structure and Mutations Associated with Cirrhosis
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/7/1/149/1791319/7-1-149.pdf
Reference19 articles.
1. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease
2. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase
3. Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2)
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