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Volumn 63, Issue 2, 1998, Pages 409-414

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

HOMOCYSTEINE; MECOBALAMIN; METHIONINE; METHIONINE SYNTHASE;

EID: 0032231379     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301976     Document Type: Article
Times cited : (44)

References (16)
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  • 2
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  • 4
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    • Chirgwin JM, Przybyla AE, Macdonald RJ, Rutter WJ (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294-5299
    • (1979) Biochemistry , vol.18 , pp. 5294-5299
    • Chirgwin, J.M.1    Przybyla, A.E.2    Macdonald, R.J.3    Rutter, W.J.4
  • 5
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    • Inherited disorders of cobalamin transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Fenton WA, Rosenberg LE (1995) Inherited disorders of cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3129-3149
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 3129-3149
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 7
    • 0030876804 scopus 로고    scopus 로고
    • Defects in auxiliary redox proteins lead to functional methionine synthase deficiency
    • Gulati S, Chen Z, Brody LC, Rosenblatt DS, Banerjee R (1997) Defects in auxiliary redox proteins lead to functional methionine synthase deficiency. J Biol Chem 272:19171-19175
    • (1997) J Biol Chem , vol.272 , pp. 19171-19175
    • Gulati, S.1    Chen, Z.2    Brody, L.C.3    Rosenblatt, D.S.4    Banerjee, R.5
  • 8
    • 0030769174 scopus 로고    scopus 로고
    • Functional methionine synthase deficiency due to cblG disorder: A report of two patients and a review
    • Harding CO, Arnold G, Barness LA, Wolff JA, Rosenblatt DS (1997) Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review. Am J Med Genet 71:384-390
    • (1997) Am J Med Genet , vol.71 , pp. 384-390
    • Harding, C.O.1    Arnold, G.2    Barness, L.A.3    Wolff, J.A.4    Rosenblatt, D.S.5
  • 9
    • 10544249877 scopus 로고    scopus 로고
    • Human methionine synthase: CDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
    • Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, Eydoux P, et al (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum Mol Genet 5:1867-1874
    • (1996) Hum Mol Genet , vol.5 , pp. 1867-1874
    • Leclerc, D.1    Campeau, E.2    Goyette, P.3    Adjalla, C.E.4    Christensen, B.5    Ross, M.6    Eydoux, P.7
  • 10
    • 13144282730 scopus 로고    scopus 로고
    • Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
    • Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D, Heng HHQ, et al (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci USA 95:3059-3064
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 3059-3064
    • Leclerc, D.1    Wilson, A.2    Dumas, R.3    Gafuik, C.4    Song, D.5    Watkins, D.6    Heng, H.H.Q.7
  • 13
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    • Inherited disorders of folate transport and metabolism
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    • Rosenblatt DS (1995) Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 3111-3128
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 3111-3128
    • Rosenblatt, D.S.1
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    • Wilden RS, Scott CR (1992) Cbl-G: presentation, treatment, and prolonged follow-up in a patient with absence of methionine synthase. Am J Hum Genet Suppl 51:A357
    • (1992) Am J Hum Genet Suppl , vol.51
    • Wilden, R.S.1    Scott, C.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.