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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 2
61
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Original article

Novel α-Globin Splice Site Mutation (HBA2: c.96-5C>A) in Combination with Three-Gene Deletion Hb H Disease

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Pages 122-125 | Received 18 Mar 2018, Accepted 29 May 2018, Published online: 11 Sep 2018

References

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  • Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood. 2001;98(1):250–251.
  • Yu X, Mollan TL, Butler A, et al. Analysis of human α globin gene mutations that impair binding to the α haemoglobin stabilizing protein. Blood. 113(23):5961–5969.
  • Smith CW, Porro EB, Patton JG, Nadal-Ginard B. Scanning from an independently specified branch point defines the 3′ splice site of mammalian introns. Nature. 1989;342(6247):243–247.
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  • Chua K, Reed R. An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing. Mol Cell Biol. 2001;21(5):1509–1514.

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