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Volumn 90, Issue 8, 2005, Pages 1135-1136

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

Author keywords

Dimer interface; G6PD class I mutations; G6PD deficiency; G6PD structure and amino acid conservation; Portugal

Indexed keywords

ASPARAGINE; DIMER; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; POLYPEPTIDE; THREONINE;

EID: 24944501283     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (10)
  • 3
    • 0029879674 scopus 로고    scopus 로고
    • Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme
    • Naylor CE, Rowland P, Basak AK, Cover S, Mason PJ, Bautista JM, et al. Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme. Blood 1996;87:2974-82.
    • (1996) Blood , vol.87 , pp. 2974-2982
    • Naylor, C.E.1    Rowland, P.2    Basak, A.K.3    Cover, S.4    Mason, P.J.5    Bautista, J.M.6
  • 4
    • 0034654509 scopus 로고    scopus 로고
    • Human glucose-6-phosphate dehydrogenase: The crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency
    • Au SWN, Cover S, Lam VMS, Adams MJ. Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency. Structure Fold Des 2000;8:293-303.
    • (2000) Structure Fold des , vol.8 , pp. 293-303
    • Au, S.W.N.1    Cover, S.2    Lam, V.M.S.3    Adams, M.J.4
  • 5
    • 0033017557 scopus 로고    scopus 로고
    • Amino acid conservation and clinical severity of human glucose-6-phosphate dehydrogenase mutations
    • Cheng YS, Tang TK, Hwang M. Amino acid conservation and clinical severity of human glucose-6-phosphate dehydrogenase mutations. J Biomed Sci 1999;6:106-14.
    • (1999) J Biomed Sci , vol.6 , pp. 106-114
    • Cheng, Y.S.1    Tang, T.K.2    Hwang, M.3
  • 6
    • 0027520218 scopus 로고
    • Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
    • Calabro V, Mason PJ, Filosa S, Civitelli D, Cittadella R, Tagarelli G, et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis. Am J Hum Genet 1993;52:527-36.
    • (1993) Am J Hum Genet , vol.52 , pp. 527-536
    • Calabro, V.1    Mason, P.J.2    Filosa, S.3    Civitelli, D.4    Cittadella, R.5    Tagarelli, G.6
  • 7
    • 0034651547 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase aveiro: A de novo mutation associated with chronic nonspherocytic hemolytic anemia
    • Costa E, Cabeda JM, Vieira E, Pinto R, Pereira SA, Ferraz L, et al. Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. Blood 2000;95:1499-501.
    • (2000) Blood , vol.95 , pp. 1499-1501
    • Costa, E.1    Cabeda, J.M.2    Vieira, E.3    Pinto, R.4    Pereira, S.A.5    Ferraz, L.6
  • 8
    • 0742306880 scopus 로고    scopus 로고
    • A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia-characterization of enzyme using yeast expression system and molecular modeling
    • Grabowska D, Jablonska-Skwiecinska E, Plochocka D, Chelstowska A, Lewandowska I, Witos I, et al. A novel mutation in the glucose-6-phosphate dehydrogenase gene in a subject with chronic nonspherocytic hemolytic anemia-characterization of enzyme using yeast expression system and molecular modeling. Blood Cells Mol Dis 2004;32:124-30.
    • (2004) Blood Cells Mol Dis , vol.32 , pp. 124-130
    • Grabowska, D.1    Jablonska-Skwiecinska, E.2    Plochocka, D.3    Chelstowska, A.4    Lewandowska, I.5    Witos, I.6
  • 9
    • 0742324497 scopus 로고    scopus 로고
    • Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase
    • van Wijk R, Huizinga EG, Prins I, Kors A, Rijksen G, Bierings M, et al. Distinct phenotypic expression of two de novo missense mutations affecting the dimer interface of glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis 2004;32:112-7
    • (2004) Blood Cells Mol Dis , vol.32 , pp. 112-117
    • Van Wijk, R.1    Huizinga, E.G.2    Prins, I.3    Kors, A.4    Rijksen, G.5    Bierings, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.