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Volumn 79, Issue 4, 2003, Pages 300-302

Novel mutations in a Thai patient with methylmalonic acidemia

Author keywords

[No Author keywords available]

Indexed keywords

COBAMAMIDE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

EID: 0042890422     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00106-9     Document Type: Article
Times cited : (23)

References (19)
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    • 0 methylmalonic acidemica identfied by polymerase-chain reaction cDNA cloning Am. J. Hum. Genet. 47:1990;808-814.
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    • Jansen, R.1    Ledley, F.D.2
  • 6
    • 0031030751 scopus 로고    scopus 로고
    • Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations
    • Ledley F.D., Rosenblatt D.S. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. Hum. Mutat. 9:1997;1-6.
    • (1997) Hum. Mutat. , vol.9 , pp. 1-6
    • Ledley, F.D.1    Rosenblatt, D.S.2
  • 8
    • 17144465654 scopus 로고    scopus 로고
    • 0 methylmalonic acidemica: Eleven novel mutations of the methylmalonyl-CoA mutase including a deletion-insertion mutation
    • 0 methylmalonic acidemica: eleven novel mutations of the methylmalonyl-CoA mutase including a deletion-insertion mutation Hum. Mutat. 16:2000;179.
    • (2000) Hum. Mutat. , vol.16 , pp. 179
    • Fuchshuber, A.1    Mucha, B.2    Baumgartner, E.R.3    Vollmer, M.4    Hildebrandt, F.5
  • 11
    • 0028246680 scopus 로고
    • Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
    • Ogasawara M., Matsubara Y., Mikami H., Narisawa K. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum. Mol. Genet. 3:1994;867-872.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 867-872
    • Ogasawara, M.1    Matsubara, Y.2    Mikami, H.3    Narisawa, K.4
  • 14
    • 0029082362 scopus 로고
    • Fully automated assay for cobalamin-dependent methymalonyl CoA mutase
    • Riedel B., Ueland P.M., Svardal A.M. Fully automated assay for cobalamin-dependent methymalonyl CoA mutase. Clin. Chem. 41:1995;1164-1170.
    • (1995) Clin. Chem. , vol.41 , pp. 1164-1170
    • Riedel, B.1    Ueland, P.M.2    Svardal, A.M.3
  • 15
    • 0024454307 scopus 로고
    • Assay of methylmalonyl CoA mutase with high-performance liquid chromatography
    • Kikuchi M., Hanamizu H., Narisawa K., Tada K. Assay of methylmalonyl CoA mutase with high-performance liquid chromatography. Clin. Chim. Acta. 184:1989;307-314.
    • (1989) Clin. Chim. Acta , vol.184 , pp. 307-314
    • Kikuchi, M.1    Hanamizu, H.2    Narisawa, K.3    Tada, K.4
  • 16
    • 0030760612 scopus 로고    scopus 로고
    • - phenotype: Evidence for naturally occurring interallelic complementation
    • - phenotype: evidence for naturally occurring interallelic complementation Hum. Mol. Genet. 6:1997;1457-1464.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1457-1464
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  • 19
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    • Molecular basis for dysfunction of some mutant forms of methymalonyl-CoA mutase: Deductions from the structure of methionine synthase
    • Drennen C.L., Matthews R.G., Rosenblatt D.S., Ledley F.D., Fenton W.A., Ludwig M.L. Molecular basis for dysfunction of some mutant forms of methymalonyl-CoA mutase: deductions from the structure of methionine synthase. Proc. Natl. Acad. Sci. USA. 93:1996;5550-5555.
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 5550-5555
    • Drennen, C.L.1    Matthews, R.G.2    Rosenblatt, D.S.3    Ledley, F.D.4    Fenton, W.A.5    Ludwig, M.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.