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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 5
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Short Communication

Identification of a New HBA1 Gene Mutation (HBA1:c.301-2A>T) in Cis with Hb Riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]

Karen G. SchepsCátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad de Buenos Aires, Argentina
,
Amanda BinaghiDivisión Hematología, Htal. de Clínicas “José de San Martín,” Ciudad de Buenos Aires, Argentina
&
Viviana VarelaCátedra de Genética y Biología Molecular, Facultad de Farmacia y Bioquímica, Universidad de Buenos Aires, Ciudad de Buenos Aires, ArgentinaCorrespondence[email protected]
Pages 504-507 | Received 10 Feb 2012, Accepted 06 Apr 2012, Published online: 19 Sep 2012

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Rob van Zwieten, Martijn Veldthuis, Barend Delzenne, Jeffrey Berghuis, Joke Groen, Fatima Ait Ichou, Els Clifford, Cornelis L. Harteveld & An K. Stroobants. (2014) Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones. Hemoglobin 38:1, pages 1-7.
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Karen G. Scheps, Silvia M. De Paula, Alicia R. Bitsman, Daniel H. Freigeiro, F. Nora Basack, Sandra P. Pennesi & Viviana Varela. (2013) Coinheritance of a Novel Mutation on the HBA1 Gene: c.187delG (p.W62fsX66) [codon 62 (–G) (α1)] with the α212 Patchwork Allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]. Hemoglobin 37:5, pages 492-500.
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Articles from other publishers (2)

Karen G. Scheps, Marcia Anahí Hasenahuer, Gustavo Parisi, Héctor M. Targovnik, Eliana García, Ernesto Samuel Veber, Renée Crisp, Graciela Elena, Viviana Varela & María Silvina Fornasari. (2018) Two novel unstable hemoglobin variants due to in‐frame deletions of key amino acids in the β‐globin chain. European Journal of Haematology 100:6, pages 529-535.
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Karen G. Scheps, Marcia A. Hasenahuer, Gustavo Parisi, María S. Fornasari, Sandra P. Pennesi, Beatriz Erramouspe, Felisa N. Basack, Ernesto S. Veber, Luis Aversa, Graciela Elena & Viviana Varela. (2015) Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia. European Journal of Haematology 94:6, pages 498-503.
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