Two New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence

dc.creatorBezerra M.A.C.
dc.creatorAlbuquerque D.M.
dc.creatorSantos M.N.N.
dc.creatorKimura E.M.
dc.creatorJorge S.E.D.C.
dc.creatorOliveira D.M.
dc.creatorDomingues B.L.T.B.
dc.creatorPeres J.C.
dc.creatorAraujo A.S.
dc.creatorCosta F.F.
dc.creatorSonati M.F.
dc.date2009
dc.date2015-06-26T13:37:02Z
dc.date2015-11-26T15:37:57Z
dc.date2015-06-26T13:37:02Z
dc.date2015-11-26T15:37:57Z
dc.date.accessioned2018-03-28T22:46:24Z
dc.date.available2018-03-28T22:46:24Z
dc.identifier
dc.identifierEuropean Journal Of Haematology. , v. 83, n. 4, p. 378 - 382, 2009.
dc.identifier9024441
dc.identifier10.1111/j.1600-0609.2009.01296.x
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-70349133018&partnerID=40&md5=fef9b4f8d0d47eb1903864c1610fe127
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/92670
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/92670
dc.identifier2-s2.0-70349133018
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1263775
dc.descriptionWe describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC→TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal β-globin chain. © 2009 John Wiley & Sons A/S.
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dc.languageen
dc.publisher
dc.relationEuropean Journal of Haematology
dc.rightsfechado
dc.sourceScopus
dc.titleTwo New Unstable Haemoglobins Leading To Chronic Haemolytic Anaemia: Hb Caruaru [β122 (gh5) Phe→ser], A Probable Case Of Germ Line Mutation, And Hb Olinda [β22 (b4) - 25 (b7)], A Deletion Of A 12 Base-pair Sequence
dc.typeArtículos de revistas


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