Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita...

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Main Authors: Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309184/
https://ncbi.nlm.nih.gov/pubmed/22341970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.01.004
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