메뉴 건너뛰기




Volumn 22, Issue 3, 1996, Pages 265-267

Hematologically important mutations: Molecular abnormalities of phosphoglycerate kinase

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 19; CHROMOSOME XQ; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE LOCATION; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; MENTAL DEFICIENCY; PRIORITY JOURNAL; RHABDOMYOLYSIS; SHORT SURVEY;

EID: 0030392285     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1996.0108     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0023091937 scopus 로고
    • Human testis-specific PGK gene lacks introns and possessed characteristics of a processed gene
    • 1. McCarrey JR, Thomas, K. Human testis-specific PGK gene lacks introns and possessed characteristics of a processed gene. Nature 326:501-505, 1987.
    • (1987) Nature , vol.326 , pp. 501-505
    • McCarrey, J.R.1    Thomas, K.2
  • 3
    • 0022339843 scopus 로고
    • Regional localization of the Phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence on chromosome 19
    • 3. Willard HF, Gross SJ, Holmes MT, Munrose DL. Regional localization of the Phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence on chromosome 19. Hum Genet 71:138-143, 1985.
    • (1985) Hum Genet , vol.71 , pp. 138-143
    • Willard, H.F.1    Gross, S.J.2    Holmes, M.T.3    Munrose, D.L.4
  • 4
    • 0342519249 scopus 로고
    • Structure of the human phosphoglycerate kinase gene and the intron mediated dispersal of the nucleotide-binding domain
    • 4. Michelson AM, Blake CCF, Evans ST, Orkin SH. Structure of the human phosphoglycerate kinase gene and the intron mediated dispersal of the nucleotide-binding domain. Proc Natl Acad Sci USA 82:6964-6969, 1985.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 6964-6969
    • Michelson, A.M.1    Blake, C.C.F.2    Evans, S.T.3    Orkin, S.H.4
  • 5
    • 0019321352 scopus 로고
    • Complete amino acid sequence of human Phosphogly cerate kinase: Cyanogen bromide peptides and complete amino acid sequence
    • 5. Huang H, Welch CD, Yoshida A. Complete amino acid sequence of human Phosphogly cerate kinase: cyanogen bromide peptides and complete amino acid sequence. J Biol Chem 255:6412-6420, 1980.
    • (1980) J Biol Chem , vol.255 , pp. 6412-6420
    • Huang, H.1    Welch, C.D.2    Yoshida, A.3
  • 6
    • 0014665542 scopus 로고
    • Hereditary hemolytic anemia associated with Phosphoglycerate kinase deficiency in erythrocytes and leukocytes: A probably X-chromosome linked syndrome
    • 6. Valentine WN, Hsieh HS, Paglia DE, et al. Hereditary hemolytic anemia associated with Phosphoglycerate kinase deficiency in erythrocytes and leukocytes: a probably X-chromosome linked syndrome. New Eng J Med 280:528-534, 1969.
    • (1969) New Eng J Med , vol.280 , pp. 528-534
    • Valentine, W.N.1    Hsieh, H.S.2    Paglia, D.E.3
  • 7
    • 0029133492 scopus 로고
    • Molecular defect of a Phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred
    • 7. Turner G, Fletcher J, Elber Y, Yanagawa Y, Dave V, Yoshida A. Molecular defect of a Phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. Brit J Haemal 91:60-65, 1995.
    • (1995) Brit J Haemal , vol.91 , pp. 60-65
    • Turner, G.1    Fletcher, J.2    Elber, Y.3    Yanagawa, Y.4    Dave, V.5    Yoshida, A.6
  • 8
    • 0017589708 scopus 로고
    • Hereditary deficiency of phosphoglycerate kinase: A new variant in erythrocytes and leukocytes, not associated with haemolytic anaemia
    • 8. Krietsch WK, Krietsch H, Kaiser W, et al. Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leukocytes, not associated with haemolytic anaemia. Eur J Clin Inv 7:427-435, 1977.
    • (1977) Eur J Clin Inv , vol.7 , pp. 427-435
    • Krietsch, W.K.1    Krietsch, H.2    Kaiser, W.3
  • 9
    • 0015306978 scopus 로고
    • Phosphoglycerate kinase: Additional variants and their geographic distribution
    • 9. Chen SH, Giblett ER. Phosphoglycerate kinase: Additional variants and their geographic distribution. Am J Hum Genet 24:229-230, 1972.
    • (1972) Am J Hum Genet , vol.24 , pp. 229-230
    • Chen, S.H.1    Giblett, E.R.2
  • 10
    • 0019173119 scopus 로고
    • Molecular abnormality of a Phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia
    • 10. Fujii H, Yoshida A. Molecular abnormality of a Phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. Proc Natl Acad Sci USA 77:5461-5465, 1980.
    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 5461-5465
    • Fujii, H.1    Yoshida, A.2
  • 11
    • 0025819489 scopus 로고
    • Molecular defect of a phosphogly cerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu→Pro substitution caused by T/A C/G transition in exon 3
    • 11. Maeda M, Yoshida A. Molecular defect of a phosphogly cerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu→Pro substitution caused by T/A C/G transition in exon 3. Blood 77:1348-1352, 1991.
    • (1991) Blood , vol.77 , pp. 1348-1352
    • Maeda, M.1    Yoshida, A.2
  • 12
    • 0026563545 scopus 로고
    • A single amino acid substitution (157 Gly→Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria
    • 12. Fujii H, Kanno H, Hirono A, Shiomura T, Miwa S. A single amino acid substitution (157 Gly→Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. Blood 79:1582-1585, 1992.
    • (1992) Blood , vol.79 , pp. 1582-1585
    • Fujii, H.1    Kanno, H.2    Hirono, A.3    Shiomura, T.4    Miwa, S.5
  • 13
    • 0028352694 scopus 로고
    • Identification of new mutations in two phospho-glycerate kinase (PGK) variants expressing different clinical syndromes: PGK Crèteil and PGK-Amiens
    • 13. Cohen-Solal M, Valentin C, Plassa F, et al. Identification of new mutations in two phospho-glycerate kinase (PGK) variants expressing different clinical syndromes: PGK Crèteil and PGK-Amiens. Blood 84:898-903, 1994.
    • (1994) Blood , vol.84 , pp. 898-903
    • Cohen-Solal, M.1    Valentin, C.2    Plassa, F.3
  • 14
    • 0029548895 scopus 로고
    • Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama)
    • 14. Yoshida A, Twele TW, Dave V, Beutler E. Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). Blood Cell Mol Dis 21:179-181, 1995.
    • (1995) Blood Cell Mol Dis , vol.21 , pp. 179-181
    • Yoshida, A.1    Twele, T.W.2    Dave, V.3    Beutler, E.4
  • 15
    • 0030020690 scopus 로고    scopus 로고
    • Retarded and aberrant splicing caused by single exon mutation in a phosphoglycerate kinase variant
    • 15. Ookawara T, Dave V, Willems P, et al. Retarded and aberrant splicing caused by single exon mutation in a phosphoglycerate kinase variant. Arch Bioch Biophys 327:35-40, 1996.
    • (1996) Arch Bioch Biophys , vol.327 , pp. 35-40
    • Ookawara, T.1    Dave, V.2    Willems, P.3
  • 16
    • 0019793694 scopus 로고
    • Use of cultured lymphoblastoid cells for the study of abnormal enzymes: Molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia
    • 16. Fujii H, Chen S-H, Akatsuka J, Miwa S, Yoshida A. Use of cultured lymphoblastoid cells for the study of abnormal enzymes: Molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proc Natl Acad Sci USA 78:2587-2590, 1981.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 2587-2590
    • Fujii, H.1    Chen, S.-H.2    Akatsuka, J.3    Miwa, S.4    Yoshida, A.5
  • 17
    • 0019168187 scopus 로고
    • A single amino acid substitution (Asp→Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency
    • 17. Fujii H, Krietsch KG, Yoshida A. A single amino acid substitution (Asp→Asn) in a phosphoglycerate kinase variant (PGK München) associated with enzyme deficiency. J Biol Chem 255:6421-6423, 1980.
    • (1980) J Biol Chem , vol.255 , pp. 6421-6423
    • Fujii, H.1    Krietsch, K.G.2    Yoshida, A.3
  • 18
    • 0011063558 scopus 로고
    • Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation
    • 18. Maeda M, Bawle EV, Kulkarni R, Beutler E, Yoshida A. Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. Blood 19:2159-2162, 1992.
    • (1992) Blood , vol.19 , pp. 2159-2162
    • Maeda, M.1    Bawle, E.V.2    Kulkarni, R.3    Beutler, E.4    Yoshida, A.5
  • 20
    • 0028231750 scopus 로고
    • A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK-North Carolina)
    • 20. 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 Neurology 35:349-353, 1994.
    • (1994) Ann Neurology , vol.35 , pp. 349-353
    • Tsujino, S.1    Tonin, P.2    Shanske, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.