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Prenatal diagnosis in two families with autosomal,p47phox-deficient chronic granulomatous disease due to a novel point mutation in NCF1 |
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| Authors: | Martin de Boer Vinita Singh Jan Dekker Maja Di Rocco David Goldblatt Dirk Roos |
| Affiliation: | 1. Central Laboratory of the Netherlands Blood Transfusion Service (CLB), and Laboratory for Experimental and Clinical Immunology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands;2. Istituto Giannina Gaslini, Second Pediatric Division, Genoa, Italy;3. Institute for Child Health, Great Ormond Street Hospital, London, UK |
| Abstract: | |
| Keywords: | chronic granulomatous disease NCF1 locus p47phox |