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Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation

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Acknowledgments

The authors thank Asako Kobayashi for the DNA library preparation.

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Authors and Affiliations

Authors

Contributions

M.K. and A.T. designed the study; M.K., N.Y., and M.I. performed the main experiments; K.Y., E.S., R.Y., S.I., and S.M. analyzed sequencing data; M.K. and A.T. wrote the paper; and K.Y and A.T supervised the study.

Corresponding author

Correspondence to Arinobu Tojo.

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Conflict of interest

The authors declare that they have no competing interests.

Ethical approval

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5).

Statement of informed consent

Informed consent was obtained from all patients for being included in the study.

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Kobayashi, M., Yokoyama, K., Shimizu, E. et al. Phenotype-based gene analysis allowed successful diagnosis of X-linked neutropenia associated with a novel WASp mutation. Ann Hematol 97, 367–369 (2018). https://doi.org/10.1007/s00277-017-3134-3

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  • DOI: https://doi.org/10.1007/s00277-017-3134-3

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