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Molecular Identification of Bacterial DNA in the Chorioretinal Scars of Chronic Granulomatous Disease

✍ Scribed by Wang, Yujuan; Marciano, Beatriz E.; Shen, Defen; Bishop, Rachel J.; Park, Stanley; Holland, Steven M.; Chan, Chi-Chao


Book ID
120284116
Publisher
Springer
Year
2013
Tongue
English
Weight
272 KB
Volume
33
Category
Article
ISSN
0271-9142

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Chronic granulomatous disease (CGD) results from constitutional inactivating mutations in the CYBB, NCF1, CYBA or NCF2 genes that encode subunits of phagocyte NADPH oxidase. We report the findings of molecular analysis of 80 kindred. In 75 unrelated male and 5 female probands, CGD was suspected on t