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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 2
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Short Communication

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance

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Pages 126-128 | Received 25 Mar 2018, Accepted 05 Apr 2018, Published online: 26 Jul 2018

References

  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541 (http://globin.cse.psu.edu).
  • Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 2004;5(5):389–396.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
  • Henderson SJ, Timbs AT, McCarthy J, et al. Ten years of routine α- and β-globin gene sequencing in UK hemoglobinopathy referrals reveals 60 novel mutations. Hemoglobin. 2016;40(2)75–84.
  • Vinciguerra M, Passarello C, Leto F, et al. Coinheritance of a rare nucleotide substitution on the β-globin gene and other known mutations in the globin clusters: management in genetic counseling. Hemoglobin. 2016;40(4):231–235.
  • Agouti I, Bennani M, Ahmed A, et al. Thalassemia intermedia due to a novel mutation in the second intervening sequence of the β-globin gene. Hemoglobin. 2007;31(4):433–438.
  • Vinciguerra M, Cannata M, Cassarà F, et al. Role of novel and rare nucleotide substitutions of the β-globin gene. Thalassemia Reports. 2012;2(1):e4.
  • Kountouris P, Lederer CW, Fanis P, et al. IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS One. 2014;9(7):e103020.
  • Fokkema IF, Taschner PE, Schaafsma GC, et al. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat. 2011;32(5):557–563.

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