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...

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Detalles Bibliográficos
Autores principales: Roesler, Joachim, Segerer, Florian, Morbach, Henner, Kleinert, Stefan, Thieme, Sebastian, Rösen-Wolff, Angela, Liese, Johannes G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
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

Internet

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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