| 1 | CBS, CBSD
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| Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
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| Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S.
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| Hum Mutat 32(7):835-42. doi: 10.1002/humu.21514. Epub 2011 Jun 7.
2011
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| 2 | CBS, CBSD
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| Cystathionine beta-synthase deficiency causes fat loss in mice.
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| Gupta S, Kruger WD.
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| PLoS One 6(11):e27598. Epub 2011 Nov 11.
2011
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| 3 | CBS, CBSD
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| Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
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| Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP.
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| Hum Mutat 31(7):809-19.
2010
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| 4 | CBS, CBSD
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| Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
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| Lee SJ, Lee DH, Yoo HW, Koo SK, Park ES, Park JW, Lim HG, Jung SC.
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| J Hum Genet 50(12):648-54. Epub 2005 Oct 5. 2005
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| 5 | CBS, CBSD
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| Mutations in the regulatory domain of cystathionine beta-synthase can functionally suppress patient-derived mutations in cis.
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| Shan X, Dunbrack Jr RL Jr, Christopher SA, Kruger WD.
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| Hum Mol Genet 10(6):635-43. 2001
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| 6 | CBS, CBSD
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| The Molecular Basis of Cystathionine beta-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment.
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| Kluijtmans LA, et al.
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| Am J Hum Genet 65(1):59-67. 1999
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