Title Issue Date
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America Urreizti, Roser; Asteggiano, Carla; Bermudez, Marta; Córdoba, Alfonso; Szlago, Mariana, et al Issued date: 2006 DOI: 10.1007/s10038-006-0362-0 Source: Journal of Human Genetics[ISSN 1434-5161],v. 51(4), p. 305-313 (Febrero 2006) JCR: 2,205 - Q3 SCIE Artículo
Erratum: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America (Journal of Human Genetics 51, (305-313) DOI: 10.1007/s10038-006-0362-0) Urreizti, Roser; Asteggiano, Carla; Bermudez, Marta; Córdoba, Alfonso; Szlago, Marina, et al Issued date: 2007 DOI: 10.1007/s10038-006-0103-4 Source: Journal of Human Genetics[ISSN 1434-5161],v. 52, p. 388-389 JCR: 2,275 - Q3 SCIE Artículo
Molecular epidemiology, genotype-phenotype correlation and BH 4 responsiveness in Spanish patients with phenylketonuria Aldámiz-Echevarría, Luis; Llarena, Marta; Bueno, María A.; Dalmau, Jaime; Vitoria, Isidro, et al Issued date: 2016 DOI: 10.1038/jhg.2016.38 Source: Journal of Human Genetics[ISSN 1434-5161],v. 61(8), p. 731-744 (Abril 2016) SJR: 1,244 - Q2 JCR: 2,471 - Q3 SCIE Artículo