Brasil
| Artículos de revistas
Mild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation
dc.creator | Sonati, MD | |
dc.creator | Kaeda, J | |
dc.creator | Kimura, EM | |
dc.creator | Costa, FF | |
dc.creator | Luzzatto, L | |
dc.date | 1998 | |
dc.date | DEC | |
dc.date | 2014-07-30T14:02:12Z | |
dc.date | 2015-11-26T16:44:27Z | |
dc.date | 2014-07-30T14:02:12Z | |
dc.date | 2015-11-26T16:44:27Z | |
dc.date.accessioned | 2018-03-28T23:29:48Z | |
dc.date.available | 2018-03-28T23:29:48Z | |
dc.identifier | Genetics And Molecular Biology. Soc Brasil Genetica, v. 21, n. 4, n. 431, n. 433, 1998. | |
dc.identifier | 1415-4757 | |
dc.identifier | WOS:000078377800002 | |
dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56973 | |
dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/56973 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1273928 | |
dc.description | We report on an eight-year-old Brazilian girl with S-beta(+) thalassemia. The patient had a steady 10.1 g/dl hemoglobin with 57% HbS. Direct sequence analysis of beta-globin gene showed her to be heterozygous for the IVS-I-6 (T-->C) mutation. This beta(+) 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 beta(S) gene, this mutation results in very mild sickle cell disease symptoms. | |
dc.description | 21 | |
dc.description | 4 | |
dc.description | 431 | |
dc.description | 433 | |
dc.language | en | |
dc.publisher | Soc Brasil Genetica | |
dc.publisher | Ribeirao Pret | |
dc.publisher | Brasil | |
dc.relation | Genetics And Molecular Biology | |
dc.relation | Genet. Mol. Biol. | |
dc.rights | aberto | |
dc.source | Web of Science | |
dc.subject | Globin Gene | |
dc.subject | Portuguese | |
dc.subject | Site | |
dc.title | Mild clinical expression of S-beta thalassemia in a Brazilian patient with the beta(+) IVS-I-6 (T -> C) mutation | |
dc.type | Artículos de revistas |