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Minigenes to confirm exon skipping mutations.
Desviat LR, Pérez B, Ugarte M. Desviat LR, et al. Methods Mol Biol. 2012;867:37-47. doi: 10.1007/978-1-61779-767-5_3. Methods Mol Biol. 2012. PMID: 22454053
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X. Trujillano D, et al. Among authors: desviat lr. Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942198 Free PMC article.
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT. Tighe O, et al. Among authors: desviat lr. Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195. Hum Mutat. 2003. PMID: 12655548
[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].
Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC). Martínez-Frías ML, et al. Among authors: desviat lr. Med Clin (Barc). 2008 Jun 21;131(3):81-8. doi: 10.1157/13124010. Med Clin (Barc). 2008. PMID: 18590621 Spanish.
159 results