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Phenotypic variability and genetic susceptibility to genomic disorders

The duplication architecture of the human genome predisposes our species to recurrent copy number variation and disease. Emerging data suggest that this mechanism of mutation contributes to both common and rare diseases. Two features regarding this form of mutation have emerged. First, common struct...

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Bibliografski detalji
Glavni autori: Girirajan, Santhosh, Eichler, Evan E.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2010
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953748/
https://ncbi.nlm.nih.gov/pubmed/20807775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq366
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