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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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Bibliografische gegevens
Hoofdauteurs: Girirajan, Santhosh, Eichler, Evan E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2010
Onderwerpen:
Online toegang: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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