Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Het...
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)
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New York: Springer US
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Language
English
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New York: Springer US
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Purpose
Chronic granulomatous disease (CGD) is an innate immune deficiency disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex that impair the synthesis of oxygen radicals, thus rendering patients susceptible to recurrent infections and excessive hyperinflammatory responses. The most common autosomal r...
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Full title
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)
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TN_cdi_proquest_miscellaneous_1999199982
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1999199982
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ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-018-0475-1