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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: de Smith, A.J., Walters, R.G., Froguel, P., Blakemore, A.I.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2009
Pynciau:
Copy Number Variation and Inherited Disease
Mynediad Ar-lein: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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