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10. Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. Marble M; Geraghty MT; de Franchis R; Kraus JP; Valle D Hum Mol Genet; 1994 Oct; 3(10):1883-6. PubMed ID: 7849717 [TBL] [Abstract][Full Text] [Related]
11. Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine. Mudd SH; Edwards WA; Loeb PM; Brown MS; Laster L J Clin Invest; 1970 Sep; 49(9):1762-73. PubMed ID: 5449710 [TBL] [Abstract][Full Text] [Related]
12. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. Kwok JS; Fung SL; Lui GC; Law EL; Chan MH; Leung CB; Tang NL Pathology; 2011 Jan; 43(1):81-3. PubMed ID: 21240075 [No Abstract] [Full Text] [Related]
13. Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria. Griffiths R; Tudball N Clin Chim Acta; 1976 Nov; 73(1):157-62. PubMed ID: 1000825 [TBL] [Abstract][Full Text] [Related]
14. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system. de Franchis R; Kozich V; McInnes RR; Kraus JP Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678 [TBL] [Abstract][Full Text] [Related]
15. Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. Kozich V; Kraus JP Hum Mutat; 1992; 1(2):113-23. PubMed ID: 1301198 [TBL] [Abstract][Full Text] [Related]
16. Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient. Griffiths R Monogr Hum Genet; 1978; 9():135-9. PubMed ID: 732830 [No Abstract] [Full Text] [Related]