| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Polycythemia and Hb Coimbra [beta 99 (G1) Asp -> Glu] in Brazil
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| Autores: |
Fattori,André
Kimura,Elza Miyuki
Albuquerque,Dulcinéia Martins de
Ogo,Satie Hatsushika
Stoppa,Graziela Renata
Martins,Juliana Touquinha
Lima,Carmen Silvia Passos
Saad,Sara Terezinha Ollala
Costa,Fernando Ferreira
Sonati,Maria de Fátima
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| Data: |
2006-01-01
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| Ano: |
2006
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| Palavras-chave: |
Polycythemia
Erythrocytosis
Hb Coimbra
Beta-globin gene
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| Resumo: |
We report the clinical and laboratory findings concerning three unrelated Brazilian patients investigated for polycythemia, whose definitive diagnosis could only be established after the presence of Hb Coimbra (b99 Asp ® Glu) was demonstrated. This illustrates the importance of properly investigating hereditary hemoglobinopathies in cases of erythrocytosis because in some populations variants with high oxygen affinity may be more frequent than expected but go undetected when conventional electrophoresis is used as the sole detection procedure.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000200002
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572006000200002
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.29 n.2 2006
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| Direitos: |
info:eu-repo/semantics/openAccess
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