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Article

Somatic genetic rescue in Mendelian haematopoietic diseases.

Nature reviews. Genetics - 1 Oct 2019

Revy Patrick, Kannengiesser Caroline, Fischer Alain

Abstract excerpt

Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of Mendelian haematopoietic disorders indicate that somatic genetic events can offset the pathogenic effect of germline mutations at the cellular level, leading to...

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PMID: 31186537
DOI: 10.1038/s41576-019-0139-x

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