Article
[Revertant somatic mosaicism in primary immunodeficiency diseases].
Nihon Rinsho Men'eki Gakkai kaishi = Japanese journal of clinical immunology - 1 Jan 2014
Wada Taizo
Abstract excerpt
Revertant somatic mosaicism has been described in an increasing number of genetic disorders including primary immunodeficiency diseases. Both back mutations leading to restoration of wild-type sequences and second-site mutations resulting in compensatory changes have been demonstrated in mosaic individuals. Recent studies identifying revertant somatic mosaicism caused by multiple independent genetic changes...
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