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Nature Genetics|November 1, 1996
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humansA J Maichele, B Burwinkel, I Maire, et al.The Journal of Biological Chemistry|December 15, 1993
The 5'-flanking region of the rat synapsin I gene directs neuron-specific and developmentally regulated reporter gene expression in transgenic miceC Hoesche, A Sauerwald, R W Veh, et al.Biochemical and Biophysical Research Communications|August 2, 2001
The paralemmin protein family: identification of paralemmin-2, an isoform differentially spliced to AKAP2/AKAP-KL, and of palmdelphin, a more distant cytosolic relativeB Hu, N G Copeland, D J Gilbert, et al.Human Genetics|September 15, 2000
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activityB Burwinkel, S A Sanjad, E Al-Sabban, et al.Proceedings of the National Academy of Sciences of the United States of America|March 15, 1992
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 glycogenosisJ J Davidson, T Ozçelik, C Hamacher, et al.The Journal of Cell Biology|October 6, 1999
Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilinX Wang, M Kibschull, M M Laue, et al.Biochemical and Biophysical Research Communications|July 30, 1999
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormalityB Burwinkel, J Kreuder, S Schweitzer, et al.American Journal of Human Genetics|June 13, 1998
Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VIB Burwinkel, H D Bakker, E Herschkovitz, et al.Cytogenetics and Cell Genetics|January 1, 1992
Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome XpJ G Wauters, P J Bossuyt, J Davidson, et al.Cytogenetics and Cell Genetics|January 1, 1990
Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosomeP J Barnard, J M Derry, A S Ryder-Cook, et al.Pageof 6