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Volumn 18, Issue 2, 2003, Pages 445-446

Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: Abnormality in mRNA splicing? [1]

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCOLYTIC ENZYME; MESSENGER RNA; PHOSPHOGLYCERATE KINASE;

EID: 0037314871     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/18.2.445     Document Type: Letter
Times cited : (8)

References (7)
  • 1
    • 0020698922 scopus 로고
    • Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase
    • Michelson AM, Markham AF, Orkin SH. Isolation and DNA sequence of a full-length cDNA clone for human X chromosome-encoded phosphoglycerate kinase. Proc Natl Acad Sci USA 1983; 80: 472-476
    • (1983) Proc. Natl. Acad. Sci. USA , vol.80 , pp. 472-476
    • Michelson, A.M.1    Markham, A.F.2    Orkin, S.H.3
  • 2
    • 0031969489 scopus 로고    scopus 로고
    • A novel missense mutation (837T→C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency
    • Sugie H, Sugie Y, Ito M, Fukuda T. A novel missense mutation (837T→C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency. J Child Neurol 1998; 13: 95-97
    • (1998) J. Child Neurol. , vol.13 , pp. 95-97
    • Sugie, H.1    Sugie, Y.2    Ito, M.3    Fukuda, T.4
  • 3
    • 0034429840 scopus 로고    scopus 로고
    • Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: Phosphoglycerate kinase and phosphofructokinase deficiency
    • Fujii H, Miwa S. Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. Baillieres Best Pract Res Clin Haematol 2000; 13: 141-148
    • (2000) Baillieres Best Pract. Res. Clin. Haematol. , vol.13 , pp. 141-148
    • Fujii, H.1    Miwa, S.2
  • 4
    • 0030020690 scopus 로고    scopus 로고
    • Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant
    • Ookawara T, Dave V, Willems P et al. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. Arch Biochem Biophys 1996; 327: 35-40
    • (1996) Arch. Biochem. Biophys. , vol.327 , pp. 35-40
    • Ookawara, T.1    Dave, V.2    Willems, P.3
  • 5
    • 0028231750 scopus 로고
    • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
    • Tsujino S, Tonin P, Shanske S et al. A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina). Ann Neurol 1994; 35: 349-353
    • (1994) Ann. Neurol. , vol.35 , pp. 349-353
    • Tsujino, S.1    Tonin, P.2    Shanske, S.3
  • 6
    • 0017589708 scopus 로고
    • Hereditary deficiency of phosphoglycerate kinase: A new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia
    • Krietsch WK, Krietsch H, Kaiser W et al. Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia. Eur J Clin Invest 1977; 7: 427-435
    • (1977) Eur. J. Clin. Invest. , vol.7 , pp. 427-435
    • Krietsch, W.K.1    Krietsch, H.2    Kaiser, W.3
  • 7
    • 0014429088 scopus 로고
    • Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia
    • Kraus AP, Langston MF, Jr, Lynch BL. Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. Biochem Biophys Res Commun 1968; 30: 173-177
    • (1968) Biochem. Biophys. Res. Commun. , vol.30 , pp. 173-177
    • Kraus, A.P.1    Langston M.F., Jr.2    Lynch, B.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.