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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Limited 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597018/
https://www.ncbi.nlm.nih.gov/pubmed/23104991
http://dx.doi.org/10.1242/dmm.010322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597018/
https://www.ncbi.nlm.nih.gov/pubmed/23104991
http://dx.doi.org/10.1242/dmm.010322

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