Associated Papers
Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.
Geramizadeh B et al.
Orphanet Journal of Rare Diseases, 2024
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase.
Carrière C et al.
Biochimica Et Biophysica Acta, 2008
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.
Hendrickx J et al.
American Journal of Human Genetics, 1999
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.
Burwinkel B et al.
Human Genetics, 1998
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).
Burwinkel B et al.
Human Molecular Genetics, 1996
Glycogen storage disease type IX: High variability in clinical phenotype.
Beauchamp NJ et al.
Molecular Genetics and Metabolism, 0
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 0
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