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Article

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Frontiers in immunology - 1 Jan 2021

Miyazawa Hanae, Wada Taizo

Abstract excerpt

Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory changes. In addition, intragenic recombination, chromosomal deletions, and copy-neutral loss of heterozygosity have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34868061
DOI: 10.3389/fimmu.2021.783022
PMCID: PMC8635092

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