| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Mild clinical expression of S-b thalassemia in a Brazilian patient with the b+ IVS-I-6 (T®C) mutation
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| Autores: |
Sonati,Maria de Fátima
Kaeda,Jaspal
Kimura,Elza Miyuki
Costa,Fernando Ferreira
Luzzatto,Lucio
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| Data: |
1998-12-01
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| Ano: |
1998
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| Resumo: |
We report on an eight-year-old Brazilian girl with S-b+ thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of b-globin gene showed her to be heterozygous for the IVS-I-6 (T®C) mutation. This b+ thalassemia mutation, sometimes referred to as the Portuguese type, was found to be associated with the C®T polymorphism at codon 2. In combination with the bS gene, this mutation results in very mild sickle cell disease symptoms.
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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=S1415-47571998000400002
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47571998000400002
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.21 n.4 1998
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| Direitos: |
info:eu-repo/semantics/openAccess
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