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European Journal of Pediatrics, Supplement

Volumn 157, Issue 2, 1998, Pages

Biochemistry and molecular genetics of cystathionine β-synthase deficiency

(1) Kraus, J P a

a Children's Hospital Colorado (United States)

Author keywords

Cystathionine synthase; Heme; Homocystinuria; S adenosylmethionine

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ALLELE; ARTICLE; CHROMOSOMAL LOCALIZATION; ENZYME DEFICIENCY; ENZYME METABOLISM; GENE FREQUENCY; GENE MUTATION; HEME SYNTHESIS; HUMAN; HUMAN CELL; METHYLATION; OXIDATION REDUCTION REACTION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031778475 PISSN: 09439676 EISSN: None Source Type: Journal
DOI: 10.1007/pl00014304 Document Type: Article

Times cited : (71)

References (7)

1
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- Expression of human cystathionine β-synthase in Escherichia coli: Purification and characterization
- Bukovska G, Kery V, Kraus JP (1994) Expression of human cystathionine β-synthase in Escherichia coli: purification and characterization. Protein Exp Purif 5:442-448
- (1994) Protein Exp Purif , vol.5 , pp. 442-448
- Bukovska, G.¹ Kery, V.² Kraus, J.P.³

2
- 0029032641
- Genomic organization of the human cystathionine β-synthase gene: Evidence for various cDNAs
- Chasse JF, Paly E, Paris D, Paul V, Sinet PM, Kamoun P, London J (1995) Genomic organization of the human cystathionine β-synthase gene: evidence for various cDNAs. Biochem. Biophys Res Commun 211:826-832
- (1995) Biochem. Biophys Res Commun , vol.211 , pp. 826-832
- Chasse, J.F.¹ Paly, E.² Paris, D.³ Paul, V.⁴ Sinet, P.M.⁵ Kamoun, P.⁶ London, J.⁷

3
- 24044512497
- Four mutations at the cystathionine β-synthase locus causing homocystinuria
- Coude M, Aral B, Zabot MT, Aupetit J, Kamoun P, Chadefaux-Vekemans B (1995) Four mutations at the cystathionine β-synthase locus causing homocystinuria (abstract) Irish J Med Sci 164
- (1995) Irish J Med Sci , pp. 164
- Coude, M.¹ Aral, B.² Zabot, M.T.³ Aupetit, J.⁴ Kamoun, P.⁵ Chadefaux-Vekemans, B.⁶

4
- 0030910663
- Characterisation of five missense mutations in the cystathionine β-synthase gene from three patients with B6 nonresponsive homocystinuria
- Dawson PA, Cox AJ, Emmerson BT, Dudman NPB, Kraus JP, Gordon RB (1997) Characterisation of five missense mutations in the cystathionine β-synthase gene from three patients with B6 nonresponsive homocystinuria. Eur J Hum Genet 5:15-21
- (1997) Eur J Hum Genet , vol.5 , pp. 15-21
- Dawson, P.A.¹ Cox, A.J.² Emmerson, B.T.³ Dudman, N.P.B.⁴ Kraus, J.P.⁵ Gordon, R.B.⁶

5
- 0028232177
- Identical genotypes in siblings with different homocystinuric phenotypes: Identification of three mutations in cystathionine β-synthase using an improved bacterial expression system
- De Franchis R, Kozich V, Mclnnes RR, Kraus JP (1994) Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system. Hum Mol Genet 3:1103-1108
- (1994) Hum Mol Genet , vol.3 , pp. 1103-1108
- De Franchis, R.¹ Kozich, V.² Mclnnes, R.R.³ Kraus, J.P.⁴

6
- 24044436705
- Four novel mutations in the cystathionine β-synthase gene in Italian and English homocystinuric patients
- in press
- De Franchis R, Kraus E, Kraus JP. Four novel mutations in the cystathionine β-synthase gene in Italian and English homocystinuric patients. Hum Mutat (in press)
- Hum Mutat
- De Franchis, R.¹ Kraus, E.² Kraus, J.P.³

7
- 24044530777
- Single versus double mutations in homocystinuria
- De Franchis R, Sebastio G, Sperandeo MP, Kraus JP (1996) Single versus double mutations in homocystinuria. J Inherit Metab Dis 19:P38
- (1996) J Inherit Metab Dis , vol.19
- De Franchis, R.¹ Sebastio, G.² Sperandeo, M.P.³ Kraus, J.P.⁴

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