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P67-phox (NCF2) Lacking Exons 11 and 12 Is Functionally Active and Leads to an Extremely Late Diagnosis of Chronic Granulomatous Disease (CGD)
Two brothers in their fifties presented with a medical history of suspected fungal allergy, allergic bronchopulmonary aspergillosis, alveolitis, and invasive aspergillosis and pulmonary fistula, respectively. Eventually, after a delay of 50 years, chronic granulomatous disease (CGD) was diagnosed in...
Autores principales: | Roesler, Joachim, Segerer, Florian, Morbach, Henner, Kleinert, Stefan, Thieme, Sebastian, Rösen-Wolff, Angela, Liese, Johannes G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3326000/ https://www.ncbi.nlm.nih.gov/pubmed/22514628 http://dx.doi.org/10.1371/journal.pone.0034296 |
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