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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 3
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Original

Hb St. Jozef, A Val→Leu N-Terminal Mutation Leading to Retention of the Methionine, and Partial Acetylation Found in the Globin Gene in Cis with a −α3.7 Thalassemia Deletion

Cornelis L. Harteveld The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Florens G.A. Versteegh Department of Paediatrics, Groene Hart Hospital, St. Jozef, Gouda, The Netherlands
,
Eduard H.G. van Leer Department of Paediatrics, Groene Hart Hospital, St. Jozef, Gouda, The Netherlands
,
Jaap S. Starreveld Department of Paediatrics, Groene Hart Hospital, St. Jozef, Gouda, The Netherlands
,
Peter J.M.J. Kok Department of Clinical Chemistry, Groene Hart Hospital, St. Jozef, Gouda, The Netherlands
,
Irene van Rooijen-Nijdam Department of Clinical Chemistry, Groene Hart Hospital, St. Jozef, Gouda, The Netherlands
,
Peter van Delft The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
,
Isabelle Zanella-Cleon Institut de Biologie et Chimie des Protéines (IFR128), Lyon, France
,
Michel Becchi Institut de Biologie et Chimie des Protéines (IFR128), Lyon, France
,
Henri Wajcman INSERM U 654, Hôpital Henri Mondor, 94010 Creteil, France
&
Piero C. Giordano The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The NetherlandsCorrespondence[email protected]
 show all
Pages 313-323 | Received 04 Sep 2006, Accepted 15 Dec 2007, Published online: 07 Jul 2009

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Xue-Mei Tan, Yan-Hui Liu, Xuan Shang, Yu-Hua Ye & Xiang-Min Xu. (2021) A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry. Hemoglobin 45:5, pages 341-344.
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Agathe Horri-Naceur & David J. Timson. (2020) In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia. Hemoglobin 44:2, pages 89-103.
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Florens G.A. Versteegh, Sandra G.J. Arkesteijn, Margreet Bakker-Verweij, Karola Haanappel, Peter van Delft, Marion Phylipsen, Judith O. Kaufmann, Peter J.M.J. Kok, Gideon W.A. Lansbergen, Piero C. Giordano & Cornelis L. Harteveld. (2011) Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New α2 Chain Variant Observed in a Morrocan Family. Hemoglobin 35:2, pages 97-102.
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Rob van Zwieten, Judith O. Kaufmann, Herma Vuil, Jan Kouwenberg, Arthur J. Verhoeven, Kea Fogelberg, Cornelis L. Harteveld & Piero C. Giordano. (2009) Hb Nile[A1] and Hb Nile[A2]: Novel Identical [α77(EF6)Pro→Ser] Variants Found in Either the α1- or α2-Globin Genes. Hemoglobin 33:3-4, pages 188-195.
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Kamran Moradkhani, Joan Henthorn, Jean Riou, Lorraine Phelan, Claude Préhu & Henri Wajcman. (2007) Hb Niigata [β1(Na1)Val→Leu] in a Romanian Individual Resulting from Another Nucleotide Substitution than that Found in the Japanese. Hemoglobin 31:4, pages 477-482.
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Cornelis L. Harteveld, Willem C.H. van Helden, George L. Boxma, Peter van Delft, Margaretha Bakker-Verweij, Henri Wajcman, Isabelle Zanella-Cleon, Michel Becchi & Piero C. Giordano. (2007) Hb Zoetermeer: A New Mutation on the α2 Gene Inducing an Ala→Ser Substitution at Codon 21 is Possibly Associated with a Mild Thalassemic Phenotype. Hemoglobin 31:3, pages 325-332.
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Articles from other publishers (9)

Jinsong Ke, Jianmei Zhao, Hongfei Li, Lei Yuan, Guanghui Dong & Guohua Wang. (2024) Prediction of protein N-terminal acetylation modification sites based on CNN-BiLSTM-attention model. Computers in Biology and Medicine 174, pages 108330.
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Melanie DemersSarah SturtevantKevin R. GuertinDipti GuptaKunal DesaiBenjamin F. VieiraWenjing LiAlexandra HicksAyman IsmailBronner P. GonçalvesGiuseppe Di CaprioEthan Schonbrun, Scott Hansen, Faik N. Musayev, Martin K. Safo, David K. Wood, John M. HigginsDavid R. Light. (2021) MetAP2 inhibition modifies hemoglobin S to delay polymerization and improves blood flow in sickle cell disease. Blood Advances 5:5, pages 1388-1402.
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Stephen O. Brennan, Richard I. King & Christopher M. Florkowski. (2012) β37Trp→Cys mutation leads to multiple new hemoglobin species in red cells. Clinical Biochemistry 45:3, pages 259-263.
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Cornelis L. Harteveld, Wytze P. Oosterhuis, Christian H. H. Schoenmakers, Hardjawardhama Ananta, Snjezana Kos, Margaretha Bakker Verweij, Peter Van Delft, Sandra G. J. Arkesteijn, Marion Phylipsen & Piero C. Giordano. (2010) α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene. European Journal of Haematology 84:4, pages 354-358.
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Isabelle Zanella-Cleon, Philippe Joly, Michel Becchi & Alain Francina. (2009) Phenotype determination of hemoglobinopathies by mass spectrometry. Clinical Biochemistry 42:18, pages 1807-1817.
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P. VAN DELFT, E. LENTERS, M. BAKKER‐VERWEIJ, M. De KORTE, U. BAYLAN, C. L. HARTEVELD & P. C. GIORDANO. (2009) Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi‐ethnic populations. International Journal of Laboratory Hematology 31:5, pages 484-495.
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Stephen O Brennan, Maurice C Owen, Tim Chan & Anna Ruskova. (2008) Novel hemoglobin α chain elongation resulting from a 15-residue insertion and tandem duplication of the F helix. Clinical Biochemistry 41:14-15, pages 1156-1161.
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Johannes M.W. van den Ouweland, Henny van Daal, Corné H. Klaassen, Yvonne van Aarssen, Cornelis L. Harteveld & Piero C. Giordano. (2008) The silent hemoglobin α chain variant Hb Riccarton [α51(CE9)Gly→Ser] may affect HbA1c determination on the HLC-723 G7 analyzer. Clinical Chemistry and Laboratory Medicine 46:6.
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Stephen O Brennan. (2008) Fifty-Eight Years of Hemoglobin Analysis. Clinical Chemistry 54:1, pages 8-10.
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