High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost effective method for screening molecular defects: Four novel mutations found in X-linked chronic granulomatous disease.

Scandinavian Journal of Immunology, 05/01/2012

The work highlights the relevance of dHPLC, a sensitive, fast, reliable, and cost–effective method for screening mutations in chronic granulomatous disease (CGD), which in combination with functional assays assessing the phagocyte respiratory burst will contribute to expedite the definitive diagnosis of X–linked CGD, direct treatment, genetic counseling, and to have a clear assumption of the prognosis. This strategy is especially suitable for developing countries.

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