Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
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[1] A. Dalton,et al. Glycogen storage disease type IX: High variability in clinical phenotype. , 2007, Molecular genetics and metabolism.
[2] Alberto Martin,et al. Examination of Msh6- and Msh3-deficient Mice in Class Switching Reveals Overlapping and Distinct Roles of MutS Homologues in Antibody Diversification , 2004, The Journal of experimental medicine.
[3] L. Kozák,et al. Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis , 2001, Journal of Inherited Metabolic Disease.
[4] Y. Kuroda,et al. Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1 , 1998, Journal of Inherited Metabolic Disease.
[5] H. Togari,et al. Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. , 2003, The Tohoku journal of experimental medicine.
[6] D. Walsh,et al. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. , 1999, Frontiers in bioscience : a journal and virtual library.
[7] M. Tuchman,et al. Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. , 1999, American journal of human genetics.
[8] E. Dams,et al. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. , 1996, Human molecular genetics.
[9] E. Dams,et al. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. , 1995, Human molecular genetics.
[10] R. Berger,et al. Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). , 1994, Genomics.
[11] U. Francke,et al. 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. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[12] L. Heilmeyer,et al. The alpha and beta subunits of phosphorylase kinase are homologous: cDNA cloning and primary structure of the beta subunit. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[13] L. Heilmeyer,et al. cDNA cloning and complete primary structure of skeletal muscle phosphorylase kinase (alpha subunit). , 1988, Proceedings of the National Academy of Sciences of the United States of America.