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Journal Abstract Search

93 related items for PubMed ID: 7627195

  • 1. A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient.
    Touraine RL, Rolland MO, Divry P, Mathieu M, Guibaud P, Bozon D.
    Hum Mutat; 1995; 5(4):354-6. PubMed ID: 7627195
    [No Abstract] [Full Text] [Related]

  • 2. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
    Acquaviva C, Benoist JF, Pereira S, Callebaut I, Koskas T, Porquet D, Elion J.
    Hum Mutat; 2005 Feb; 25(2):167-76. PubMed ID: 15643616
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Hum Mol Genet; 1994 Jun; 3(6):867-72. PubMed ID: 7951229
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  • 4. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
    Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA.
    Proc Natl Acad Sci U S A; 2002 Nov 26; 99(24):15554-9. PubMed ID: 12438653
    [Abstract] [Full Text] [Related]

  • 5. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.
    Hum Mutat; 1998 Nov 26; 11(4):270-4. PubMed ID: 9554742
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  • 9. The inherited methylmalonic acidemias.
    Rosenberg LE.
    Prog Clin Biol Res; 1982 Nov 26; 103 Pt B():187-209. PubMed ID: 6131428
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  • 11. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
    Méndez ST, Vela-Amieva M, Velázquez-Arellano A, Ibarra I, Flores ME.
    Rev Invest Clin; 2012 Nov 26; 64(3):255-61. PubMed ID: 23045948
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  • 12. [Methylmalonic acidemia].
    Ohura T.
    Tanpakushitsu Kakusan Koso; 1988 Apr 26; 33(5):579-84. PubMed ID: 2908397
    [No Abstract] [Full Text] [Related]

  • 13. [Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].
    Chen Z, Zhang X, Huang J, Wen P, Wang G, Tang G, Zu Y, Chen X, Cui D, Zhang M, Qi Z, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr 26; 32(2):218-21. PubMed ID: 25863090
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  • 15. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].
    Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H.
    Rinsho Byori; 1995 Jun 26; 43(6):625-9. PubMed ID: 7602808
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  • 16. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.
    Oyama C, Takahashi T, Matsumori M, Shoji Y, Tajima G, Sakura N, Hasegawa Y, Yamaguchi S, Kakinuma H, Takada G.
    Pediatr Int; 2007 Apr 26; 49(2):232-4. PubMed ID: 17445044
    [No Abstract] [Full Text] [Related]

  • 17. Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
    Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.
    Gene; 2016 Jan 15; 576(1 Pt 2):208-13. PubMed ID: 26449400
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  • 19. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.
    Hum Mutat; 1995 Jan 15; 5(1):94-6. PubMed ID: 7728155
    [No Abstract] [Full Text] [Related]

  • 20. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.
    Keeratichamroen S, Cairns JR, Sawangareetrakul P, Liammongkolkul S, Champattanachai V, Srisomsap C, Kamolsilp M, Wasant P, Svasti J.
    Biochem Genet; 2007 Jun 15; 45(5-6):421-30. PubMed ID: 17410422
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