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A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease

LC Tanugi-Cholley, JP Issartel, J Lunardi, F Freycon, F Morel, PV Vignais
Journal: Blood
Blood (1995) 85 (1): 242–249.
https://doi.org/10.1182/blood.V85.1.242.bloodjournal851242
Published: 1995