Article
A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).
Gene - 26 Apr 2006
Rump Andreas, Rösen-Wolff Angela, Gahr Manfred, Seidenberg Jürgen, Roos Christian, Walter Lutz, Günther Viola, Roesler Joachim
Abstract excerpt
Chronic granulomatous disease (CGD) is caused by a defect in both the host's defenses and its regulation of inflammation normally provided by phagocytes and other leukocytes. As in the case described here, it is not uncommon that CGD patients are diagnosed late, only after organ-damaging manifestations have already progressed. In this patient, we found that CGD arose due to a splice-supporting mutation in the...
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