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|Type:||Artigo de periódico|
|Title:||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|
|Abstract:||We 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.|
|Appears in Collections:||Unicamp - Artigos e Outros Documentos|
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