Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters.

Abstract excerpt

Molecular genetic studies of two families with X-linked chronic granulomatous disease (X-CGD) were performed. The patients showed abnormal patterns on Southern blot analysis using cytochrome b heavy chain (CYBB) cDNA as a probe. Both patterns differed and neither has ever been observed in normal individuals. We applied the results to the diagnosis of the carrier state in the patients' sisters. The results clearly...

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