Published in
American Society of Hematology, Blood Advances, 4(1), p. 270-278, 2016
DOI: 10.1182/bloodadvances.2016001214
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Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease
Journal article published in 2016 by
Randall K. Merling,
Douglas B. Kuhns,
Colin L. Sweeney,
Xiaolin Wu,
Sandra Burkett 
,
Jessica Chu,
Janet Lee,
Sherry Koontz,
Giovanni Di Pasquale,
Sandra A. Afione,
John A. Chiorini,
Elizabeth M. Kang,
Uimook Choi,
Suk See De Ravin,
Harry L. Malech
,
Jessica Chu,
Janet Lee,
Sherry Koontz,
Giovanni Di Pasquale,
Sandra A. Afione,
John A. Chiorini,
Elizabeth M. Kang,
Uimook Choi,
Suk See De Ravin,
Harry L. Malech
This paper is made freely available by the publisher.
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Abstract
Key Points Gene-editing correction of the GT deletion in exon 2 of NCF1 pseudogenes corrects p47phox-deficient chronic granulomatous disease. The nonfunctional pseudogenes NCF1B and NCF1C can be resurrected to produce functional p47phox protein by gene editing.