1 | AHCY, AHCYD, GNMT, MAT1A
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| Inherited disorders in the conversion of methionine to homocysteine.
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| Bariæ I.
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| J Inherit Metab Dis 32(4):459-71. Epub 2009 Jul 7. Review.
2009
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2 | MAT1A
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| Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity.
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| Perez Mato I, Sanchez del Pino MM, Chamberlin ME, Mudd SH, Mato JM, Corrales FJ.
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| J Biol Chem 276(17):13803-9. 2001
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3 | MAT1A
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| Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.
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| Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY.
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| Am J Hum Genet 66(2):347-55. 2000
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4 | MAT1A
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| Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
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| Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA.
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| Am J Med Genet 75(4):395-400. 1998
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5 | MAT1A
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| Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene.
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| Chamberlin ME, et al.
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| Am J Hum Genet 60 : 540-546. 1997
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6 | MAT1A
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| Novel mutations in the methionine adenosyltransferase 1A gene that cause isolated persistent hypermethioninemia. (abstr)
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| Chamberlin ME, et al.
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| Am J Hum Genet 61 : A249. 1997
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7 | MAT1A
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| Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.
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| Chamberlin ME, et al.
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| J Clin Invest 98 : 1021-1027. 1996
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8 | MAT1A
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| Characterization of a full-length cDNA encoding human liver S-adenosylmethionine synthetase : tissue-specific gene expression and mRNA levels in hepatopathies.
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| Alvarez L, et al.
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| Biochem J 293 : 481-486. 1993
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9 | MAT1A
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| Molecular cloning and nucleotide sequence of cDNA encoding the human liver S-adenosylmethionine synthetase.
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| Horikawa S, et al.
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| Biochem Int 25 : 81-90. 1991
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