Article
Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
Nature genetics - 1 Aug 1999
Waisfisz Q, Morgan N V, Savino M, de Winter J P, van Berkel C G, Hoatlin M E, Ianzano L, Gibson R A, Arwert F, Savoia A, Mathew C G, Pronk J C, Joenje H
Abstract excerpt
Somatic mosaicism due to reversion of a pathogenic allele to wild type has been described in several autosomal recessive disorders. The best known mechanism involves intragenic mitotic recombination or gene conversion in compound heterozygous patients, whereby one allele serves to restore the wild-type sequence in the other. Here we document for the first time functional correction of a pathogenic microdeletion,...
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