Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Structural copy number variation (CNV) is a frequent cause of human variation and disease. Evidence is mounting that somatic acquired CNVs are prevalent, with mosaicisms of large segmental CNVs in blood found in up to one percent of both the healthy and patient populations. It is generally accepted...

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Bibliografski detalji
Glavni autori: Robberecht, Caroline, Voet, Thierry, Utine, Gülen E, Schinzel, Albert, de Leeuw, Nicole, Fryns, Jean-Pierre, Vermeesch, Joris
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2012
Teme:
Research
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3350457/
https://ncbi.nlm.nih.gov/pubmed/22490612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-19
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