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The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. Among authors: rodes m. J Hum Genet. 2006;51(4):305-313. doi: 10.1007/s10038-006-0362-0. Epub 2006 Feb 15. J Hum Genet. 2006. PMID: 16479318
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. Urreizti R, et al. Among authors: rodes m. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4. J Hum Genet. 2007. PMID: 32033511
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Vilaseca MA, Kobayashi K, Briones P, Lambruschini N, Campistol J, Tabata A, Alomar A, Rodès M, Lluch M, Saheki T. Vilaseca MA, et al. Among authors: rodes m. Mol Genet Metab. 2001 Nov;74(3):396-8. doi: 10.1006/mgme.2001.3221. Mol Genet Metab. 2001. PMID: 11708871
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
Martínez G, Ribes A, Briones P, Rodés M, Baldellou A, Pineda M, Rodrigo C, Lorente I, García-Silva MT, Riudor E, Jaraba P, Lopez-Casas J, Nuñez-Roldan A. Martínez G, et al. Among authors: rodes m. J Inherit Metab Dis. 1998 Aug;21(6):693-4. doi: 10.1023/a:1005461407231. J Inherit Metab Dis. 1998. PMID: 9762615 No abstract available.
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ. Macías-Vidal J, et al. Among authors: rodes m. Clin Genet. 2009 Nov;76(5):486-9. doi: 10.1111/j.1399-0004.2009.01222.x. Clin Genet. 2009. PMID: 19863563 No abstract available.
39 results