Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas Beauchamp, Ann Dalton, Uma Ramaswami et al. · Molecular Genetics and Metabolism · 2007 · 125 citations

Life Sciences, Genetics, Molecular Genetics +12

Examination of Msh6- and Msh3-deficient Mice in Class Switching Reveals Overlapping and Distinct Roles of MutS Homologues in Antibody Diversification

Ziqiang Li, Stefan Scherer, Diana Ronai et al. · The Journal of Experimental Medicine · 2004 · 96 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit.

Manfred W. Kilimann, Norbert Zander, Carl C. Kuhn et al. · Proceedings of the National Academy of Sciences · 1988 · 94 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Jutta Davidson, C Hamacher, P J Willems et al. · Proceedings of the National Academy of Sciences · 1992 · 94 citations

Life Sciences, Genetics, Molecular Genetics +12

cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit).

Norbert Zander, Helmut E. Meyer, Edeltraut Hoffmann-Posorske et al. · Proceedings of the National Academy of Sciences · 1988 · 86 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15