AAAAAA

   
Results: 1-9 |
Results: 9
A novel single-base substitution (380C > T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene
Authors: Nakamura, K Fukao, T Perez-Cerda, C Luque, C Song, XQ Naiki, Y Kohno, Y Ugarte, M Kondo, N
Citation: K. Nakamura et al., A novel single-base substitution (380C > T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene, MOL GEN MET, 72(2), 2001, pp. 115-121
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism
Authors: Gallardo, ME Desviat, LR Rodriguez, JM Esparza-Gordillo, J Perez-Cerda, C Perez, B Rodriguez-Pombo, P Criado, O Sanz, R Morton, DH Gibson, KM Le, TP Ribes, A de Cordoba, SR Ugarte, M Penalva, MA
Citation: Me. Gallardo et al., The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism, AM J HU GEN, 68(2), 2001, pp. 334-346
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
Authors: Perez-Cerda, C Merinero, B Rodriguez-Pombo, P Perez, B Desviat, LR Muro, S Richard, E Garcia, MJ Gangoiti, J Sala, PR Sanz, P Briones, P Ribes, A Martinez-Pardo, M Campistol, J Perez, M Lama, R Murga, ML Lema-Garrett, T Verdu, A Ugarte, M
Citation: C. Perez-cerda et al., Potential relationship between genotype and clinical outcome in propionic acidaemia patients, EUR J HUM G, 8(3), 2000, pp. 187-194
Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III
Authors: Ruetschi, U Cerone, R Perez-Cerda, C Schiaffino, MC Standing, S Ugarte, M Holme, E
Citation: U. Ruetschi et al., Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III, HUM GENET, 106(6), 2000, pp. 654-662
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains
Authors: Muro, S Perez, B Rodriguez-Pombo, P Desviat, LR Perez-Cerda, C Ugarte, M
Citation: S. Muro et al., Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: An approach to the determination of the beta-propionyl-CoA carboxylase functional domains, J INH MET D, 23(4), 2000, pp. 300-304
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
Authors: Ugarte, M Perez-Cerda, C Rodriguez-Pombo, P Desviat, LR Perez, B Richard, E Muro, S Campeau, E Ohura, T Gravel, RA
Citation: M. Ugarte et al., Overview of mutations in the PCCA and PCCB genes causing propionic acidemia, HUM MUTAT, 14(4), 1999, pp. 275-282
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein
Authors: Richard, E Desviat, LR Perez, B Perez-Cerda, C Ugarte, M
Citation: E. Richard et al., Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein, BBA-MOL BAS, 1453(3), 1999, pp. 351-358
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
Authors: Merinero, B Pascual, SIP Perez-Cerda, C Gangoiti, J Castro, M Garcia, MJ Castroviejo, IP Vianey-Saban, C Andresen, B Gregersen, N Ugarte, M
Citation: B. Merinero et al., Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency, J INH MET D, 22(7), 1999, pp. 802-810
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia
Authors: Muro, S Perez-Cerda, C Rodriguez-Pombo, P Perez, B Briones, P Ribes, A Ugarte, M
Citation: S. Muro et al., Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia, J MED GENET, 36(5), 1999, pp. 412-414
Risultati: 1-9 |