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| Miranda,Silvia R.P.; Fonseca,Silvana F.; Figueiredo,Maria S.; Yamamoto,Myoko; Grotto,Helena Z.W.; Saad,Sara T.O.; Costa,Fernando F.. |
| Hb Köln was identified by DNA analysis in a Brazilian patient. A four-year old Brazilian female, with jaundice since birth, presented an abnormal band, between A2 and S, in hemoglobin electrophoresis on a cellulose acetate membrane, and a band with electrophoretic migration similar to Hb C on agar gel. Thermic instability and isopropanol precipitation tests were positive. Heinz bodies were observed in the patients peripheral blood. Sequencing of the three exons of the <FONT FACE="Symbol">b</font> globin gene detected a transition from G to A in the first position of codon 98. This alteration does not create or abolish any known restriction site. In this case, confirmation of the mutation was accomplished by allele-specific oligonucleotide... |
| Tipo: Info:eu-repo/semantics/other |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400030 |
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