PHKG2

PHKG2

Phosphorylase kinase, gamma 2 (testis), also known as PHKG2, is a human gene.cite web | title = Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5261| accessdate = ]

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References

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*cite journal | author=Hanks SK |title=Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. |journal=Mol. Endocrinol. |volume=3 |issue= 1 |pages= 110–6 |year= 1989 |pmid= 2915644 |doi=
*cite journal | author=Hanks SK |title=Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 2 |pages= 388–92 |year= 1987 |pmid= 2948189 |doi=
*cite journal | author=Søvik O, deBarsy T, Maehle B |title=Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. |journal=Eur. J. Pediatr. |volume=139 |issue= 3 |pages= 210 |year= 1983 |pmid= 6962066 |doi=
*cite journal | author=Huang CY, Yuan CJ, Livanova NB, Graves DJ |title=Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit. |journal=Mol. Cell. Biochem. |volume=127-128 |issue= |pages= 7–18 |year= 1994 |pmid= 7935363 |doi=
*cite journal | author=Whitmore SA, Apostolou S, Lane S, "et al." |title=Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16. |journal=Genomics |volume=20 |issue= 2 |pages= 169–75 |year= 1994 |pmid= 8020963 |doi= 10.1006/geno.1994.1150
*cite journal | author=Maichele AJ, Burwinkel B, Maire I, "et al." |title=Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. |journal=Nat. Genet. |volume=14 |issue= 3 |pages= 337–40 |year= 1996 |pmid= 8896567 |doi= 10.1038/ng1196-337
*cite journal | author=Lowe ED, Noble ME, Skamnaki VT, "et al." |title=The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition. |journal=EMBO J. |volume=16 |issue= 22 |pages= 6646–58 |year= 1998 |pmid= 9362479 |doi= 10.1093/emboj/16.22.6646
*cite journal | author=Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW |title=Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. |journal=Hum. Mol. Genet. |volume=7 |issue= 1 |pages= 149–54 |year= 1998 |pmid= 9384616 |doi=
*cite journal | author=Burwinkel B, Tanner MS, Kilimann MW |title=Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) |journal=J. Med. Genet. |volume=37 |issue= 5 |pages= 376–7 |year= 2000 |pmid= 10905889 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Burwinkel B, Rootwelt T, Kvittingen EA, "et al." |title=Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. |journal=Pediatr. Res. |volume=54 |issue= 6 |pages= 834–9 |year= 2004 |pmid= 12930917 |doi= 10.1203/01.PDR.0000088069.09275.10
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Beauchamp NJ, Dalton A, Ramaswami U, "et al." |title=Glycogen storage disease type IX: High variability in clinical phenotype. |journal=Mol. Genet. Metab. |volume=92 |issue= 1-2 |pages= 88–99 |year= 2007 |pmid= 17689125 |doi= 10.1016/j.ymgme.2007.06.007

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