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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. 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
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT, Pessoa JG, Motta FL, Muñoz Rojas MV, Müller KB, Lourenço CM, Junior Marques W, D'Almeida V, Martins AM, Pesquero JB. Turaça LT, et al. J Hum Genet. 2012 Jun;57(6):347-51. doi: 10.1038/jhg.2012.32. Epub 2012 May 3. J Hum Genet. 2012. PMID: 22551898
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. J Hum Genet. 2007 Apr;52(4):388-389. doi: 10.1007/s10038-006-0103-4. J Hum Genet. 2007. PMID: 32033511
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Gomes CP, Marins MM, Motta FL, Kyosen SO, Curiati MA, D'Almeida V, Martins AM, Pesquero JB. Gomes CP, et al. Front Genet. 2020 Mar 18;10:1383. doi: 10.3389/fgene.2019.01383. eCollection 2019. Front Genet. 2020. PMID: 32256517 Free PMC article.
Esterase D assay in Brazilian retinoblastoma families.
Costanzi E, da Silva-Fernandes ME, D'Almeida V, Erwenne CM. Costanzi E, et al. Am J Med Genet. 1989 Nov;34(3):391-6. doi: 10.1002/ajmg.1320340314. Am J Med Genet. 1989. PMID: 2596526
222 results