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Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia

  • Tingting Zou
  • Jianjun Deng
  • Min Shu
  • Qin Guo
  • Ruixue Miao
  • Chao-min Wan
  • Gang Ning
  • Yu Zhu
Scientific Letter
  • 55 Downloads

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Box LA, Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007;49:609–14.CrossRefGoogle Scholar
  2. 2.
    Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. 2000;96:2317–22.PubMedGoogle Scholar
  3. 3.
    Ishikawa N, Okada S, Miki M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet. 2008;45:802–7.CrossRefPubMedGoogle Scholar
  4. 4.
    Smith BN, Ancliff BJ, Pizzey A, et al. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol. 2009;144:762–70.CrossRefPubMedGoogle Scholar
  5. 5.
    Germeshausen M, Deerberg S, Peter Y, Reimer C, Kratz CP, Ballmaier M. The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. Hum Mutat. 2013;34:905–14.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of Infectious DiseasesWest China Second University HospitalChengduChina
  2. 2.Department of Medical ImagingWest China Second University HospitalChengduChina

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