Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

Numerous disease syndromes are associated with regions of copy number variation (CNV) in the human genome and, in most cases, the pathogenicity of the CNV is thought to be related to altered dosage of the genes contained within the affected segment. However, establishing the contribution of individu...

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Detalhes bibliográficos
Main Authors: Doelken, Sandra C., Köhler, Sebastian, Mungall, Christopher J., Gkoutos, Georgios V., Ruef, Barbara J., Smith, Cynthia, Smedley, Damian, Bauer, Sebastian, Klopocki, Eva, Schofield, Paul N., Westerfield, Monte, Robinson, Peter N., Lewis, Suzanna E.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Limited 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597018/
https://ncbi.nlm.nih.gov/pubmed/23104991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.010322
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