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Type: Artigo de periódico
Title: Hb Southampton [b106(g8)leu→pro, Ctg→ccg] In A Uruguayan Woman
Author: Pereira J.A.L.
Lopez P.
Costa F.F.
Sans M.
Sonati M.D.F.
Abstract: Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.
Rights: aberto
Identifier DOI: 10.5581/1516-8484.20130037
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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