| 1 | PGK1, PGK1D
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| A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
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| Behlmann AM, Goyal NA, Yang X, Chen PH, Ankala A.
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| JIMD Rep. 45:105-110. doi: 10.1007/8904_2018_147. Epub 2018 Dec 21 2019
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| 2 | PGK1, PGK1D
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| A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.
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| Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T.
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| Intractable Rare Dis Res. May;6(2):132-136. doi: 10.5582/irdr.2017.01020 2017
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| 3 | PGK1, PGK1D
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| Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency.
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| Svaasand EK, Aasly J, Landsem VM, Klungland H.
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| Muscle Nerve 36(5):679-84.PMID: 1766137 2007
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| 4 | PGK1, PGK1D
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| A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis.
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| Morimoto A, Ueda I, Hirashima Y, Sawai Y, Usuku T, Kano G, Kuriyama K, Todo S, Sugimoto T, Kanno H, Fujii H, Imashuku S.
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| Br J Haematol 122(6):1009-13. Review. 2003
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| 5 | PGK1, PGK1D
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| Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred.
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| Turner G, et al.
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| Br J Haematol 91 : 60-65. 1995
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| 6 | PGK1, PGK1D
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| A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
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| Tsujino S, et al.
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| Ann Neurol 35 : 349-353. 1994
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| 7 | PGK1, PGK1D
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| A single amino acid substitution (157 Gly--Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria.
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| Fujii H, et al.
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| Blood 79 : 1582-1585. 1992
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| 8 | PGK1, PGK1D
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| Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia : Leu-Pro substitution caused by T/A-C/G transition in exon 3.
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| Maeda M, et al.
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| Blood 77 : 1348-1352. 1991
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| 9 | PGK1, PGK1D
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| Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leucocytes. A probable X-chromosome-linked syndrome.
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| Valentine WN, et al.
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| N Engl J Med 280 : 528-534. 1969
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