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Human Genetics|May 1, 1992
Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCRM W Kilimann, A Pizzuti, M Grompe, et al.FEBS Letters|October 26, 1992
cDNA encoding the chicken ortholog of the mouse dilute gene product. Sequence comparison reveals a myosin I subfamily with conserved C-terminal domainsG Sanders, B Lichte, H E Meyer, et al.Human Molecular Genetics|February 28, 1998
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosisB Burwinkel, S Shiomi, A Al Zaben, et al.Nature Genetics|December 1, 1993
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoformA Schneider, J J Davidson, A Wüllrich, et al.American Journal of Human Genetics|August 1, 1989
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13U Francke, B T Darras, N F Zander, et al.Human Molecular Genetics|February 1, 1995
Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14R Yamamoto, X Li, S Winter, et al.The EMBO Journal|July 1, 1992
Amphiphysin, a novel protein associated with synaptic vesiclesB Lichte, R W Veh, H E Meyer, et al.Human Molecular Genetics|November 1, 1994
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunitM Wehner, P R Clemens, A G Engel, et al.Neurogenetics|March 29, 2000
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patientsM Vorgerd, B Burwinkel, H Reichmann, et al.Nature|July 3, 1983
Disruption of microfilament organization after injection of F-actin capping proteins into living tissue culture cellsA Füchtbauer, B M Jockusch, H Maruta, et al.Pageof 6