Article
Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.
Blood cells, molecules & diseases - 1 Jul 2017
de Boer Martin, van Leeuwen Karin, Geissler Judy, Belohradsky Bernd H, Kuijpers Taco W, Roos Dirk
Abstract excerpt
In a male patient suffering from X-linked chronic granulomatous disease (CGD) we found a c.389G>T mutation in exon 5 of the CYBB gene. We have analyzed why 95% of the transcripts of this gene lacked exon 5, leading to a frameshift and premature termination codon. The mutation was located in a region comprising three putative exonic splicing enhancer binding sites, for SRSF1, SRFS2 and SRFS6, according to the...
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