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Clinicobiological, immunophenotypic, and molecular characteristics of monoclona...
LIMA, M.; ALMEIDA, J.; MONTERO, A.G.; TEIXEIRA M DOS, A.; QUEIROS, M.L.; SANTOS, A.H.; BALANZATEGUI, A.; ESTEVINHO, A.; ALGUERO MDEL, C.; BARCENA, P.Am J Pathol. 2004 Oct;165(4):1117-27. Clinicobiological, immunophenotypic, and molecular characteristics of monoclonal CD56-/+dim chronic natural killer cell large granular lymphocytosis. Lima M, Almeida J, Montero AG, Teixeira Mdos A, Queirós ML, Santos AH, Balanzategui A, Estevinho A, Algueró Mdel C, Barcena P, Fonseca S, Amorim ML, Cabeda JM, Pinho L, Gonzalez M, San Miguel J, Justiça B, Orfão A. Serviço d...
Advances in the genotyping of thrombosis genetic risk factors: clinical and lab...
Cabeda, J.; Pereira, M.; Oliveira, J.; Estevinho, A.; Pereira, I.; Morais, S.; Justiça, B.; Campos, M.Since FV-Leiden polymorphism was first described in 1994, a growing number of polymorphic loci have been identified in association with increased genetic risk for thrombophilia. Often however, these risk factors have been studied in isolation of the remaining known phenotype linked polymorphisms. This fact has, at least in part, been justified by the laborious techniques traditionally used in the genotyping stu...
Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from ...
Cabeda, J.; Correia, C.; Estevinho, A.; Simões, C.; Amorim, M.; Pinho, L.; Justiça, B.We characterized the genetic nature of beta-thalassaemia in northern Portugal. Of the 164 patients studied three were beta-thalassaemia major cases (one IVS-1-6/beta degrees 39 and two homozygous IVS-1-110). The analysis of the frequency of each mutation in the families revealed that the codon 6(-A) mutation was unexpectedly frequent (40%) and associated with the beta-globin haplotype E, and not with the usual ...
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