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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 4
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Original

Hb RAMPA [α95(G2)Pro→Ser (α2)] IN A FAMILY OF EUROPEAN ANCESTRY: DNA ANALYSIS CONFIRMS THE C CG→T CG MUTATION AT CODON 95 OF THE α2-GLOBIN GENE; CLINICAL AND LABORATORY FEATURES

James D. Hoyer Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Rochester, MN, 55905, U.S.A.
,
Eric Rachut
,
Kathleen S. Kubik Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Rochester, MN, 55905, U.S.A.
,
Richard T. Jones Department of Biochemistry, Oregon Health Sciences University, Portland, OR, 97201-3098, U.S.A.
,
George R. Honig Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, 60612, U.S.A.
,
Loyda N. Vida Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, 60612, U.S.A.
&
Virgil F. Fairbanks Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Rochester, MN, 55905, U.S.A.
 show all
Pages 397-403 | Received 25 Apr 2002, Accepted 07 Jun 2002, Published online: 07 Jul 2009

REFERENCES

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  • Krishnan K., Martinez F., Wille R. T., Jones R. T., Shih D. T., Head V. F., Fairbanks V. F., Dabich L. Hb Washtenaw [β11(A8)Val→Phe] An Electrophoretically Silent, Unstable, Low Oxygen Affinity Variant Associated With Anemia and Chronic Cyanosis. Hemoglobin 1994; 18 (4&5): 285–295
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  • Huisman T.H. J., Gravely M. E., Henson J., Felice A., Wilson J. B., Abraham E. C., Vella F., Little M. W. Variability in the Interaction of β-Thalassemia With the α-Chain Variants Hb G–Philadelphia and Hb Rampa. J. Lab. Clin. Med. 1978; 92(2)311–320
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  • Bezzina Wettinger S., Galdies R., Scerri C., Felice A. E. Characterization and Locus Assignment of Two α-Globin Variants Present in the Maltese Population: Hb St. Luke's [α95(G2)Pro→Arg] and Hb Setif [α94(G1)Asp→Tyr]. Hemoglobin 1999; 23(2)145–157
  • Wajcman H., Kister J., Riou J., Galactéros F., Girot R., Maier–Redelsperger M., Nayudu N.V. S., Giordano P. C. Hb Godavari [α95(G2)Pro→Thr]: a Neutral Amino Acid Substitution in the α1β2 Interface That Modifies the Electrophoretic Mobility of Hemoglobin. Hemoglobin 1998; 22(1)11–22

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