Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease

Copy number variants (CNVs) overlap over 7000 genes, many of which are pivotal in biological pathways. The implications of this are profound, with consequences for evolutionary studies, population genetics, gene function and human phenotype, including elucidation of genetic susceptibility to major c...

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Bibliografiske detaljer
Main Authors: de Smith, A.J., Walters, R.G., Froguel, P., Blakemore, A.I.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2009
Fag:
Copy Number Variation and Inherited Disease
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2920180/
https://ncbi.nlm.nih.gov/pubmed/19287135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000184688
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