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Results: 1-6 |
Results: 6

Authors: Bento, MC Ribeiro, ML Cunha, E Goncalves, P Martin-Nunez, G Tamagnini, G
Citation: Mc. Bento et al., beta-thalassemia intermedia resulting from compound heterozygosity for an IVSI-1 (G-A) and a silent 5 ' UTR+33 (C-G) mutation, HAEMATOLOG, 85(4), 2000, pp. 443-444

Authors: Manco, L Ribeiro, ML Maximo, V Almeida, H Costa, A Freitas, O Barbot, J Abade, A Tamagnini, G
Citation: L. Manco et al., A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency, BR J HAEM, 110(4), 2000, pp. 993-997

Authors: Ribeiro, ML Alloisio, N Almeida, H Gomes, C Texier, P Lemos, C Mimoso, G Morle, L Bey-Cabet, F Rudigoz, RC Delaunay, J Tamagnini, G
Citation: Ml. Ribeiro et al., Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3, BLOOD, 96(4), 2000, pp. 1602-1604

Authors: Moriniere, M Ribeiro, L Dalla Venezia, N Deguillien, M Maillet, P Cynober, T Delhommeau, F Almeida, H Tamagnini, G Delaunay, J Baklouti, F
Citation: M. Moriniere et al., Elliptocytosis in patients with C-terminal domain mutations of protein 4.1correlates with encoded messenger RNA levels rather than with alterations in primary protein structure, BLOOD, 95(5), 2000, pp. 1834-1841

Authors: Amaral, O Lacerda, L Marcao, A Pinto, E Tamagnini, G Miranda, MCS
Citation: O. Amaral et al., Homozygosity for two mild glucocerebrosidase mutations of probable Iberianorigin, CLIN GENET, 56(1), 1999, pp. 100-102

Authors: Manco, L Ribeiro, ML Almeida, H Freitas, O Abade, A Tamagnini, G
Citation: L. Manco et al., PK-LR gene mutations in pyruvate kinase deficient Portuguese patients, BR J HAEM, 105(3), 1999, pp. 591-595
Risultati: 1-6 |