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8. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Shih VE; Fringer JM; Mandell R; Kraus JP; Berry GT; Heidenreich RA; Korson MS; Levy HL; Ramesh V Am J Hum Genet; 1995 Jul; 57(1):34-9. PubMed ID: 7611293 [TBL] [Abstract][Full Text] [Related]
9. Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. Aral B; Coudé M; London J; Aupetit J; Chassé JF; Zabot MT; Chadefaux-Vekemans B; Kamoun P Hum Mutat; 1997; 9(1):81-2. PubMed ID: 8990018 [No Abstract] [Full Text] [Related]
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13. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774 [TBL] [Abstract][Full Text] [Related]
14. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636 [TBL] [Abstract][Full Text] [Related]
15. The usefulness of pyridoxine in the treatment of homocystinuria: a review of postulated mechanisms of action and a new hypothesis. Spaeth GL Birth Defects Orig Artic Ser; 1976; 12(3):347-57. PubMed ID: 782596 [No Abstract] [Full Text] [Related]
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