Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of genes with less obvious phenotypic consequence...

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Detalles Bibliográficos
Autores principales: Alsalem, Ahmed B., Halees, Anason S., Anazi, Shamsa, Alshamekh, Shomoukh, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3868571/
https://www.ncbi.nlm.nih.gov/pubmed/24367280
http://dx.doi.org/10.1371/journal.pgen.1004030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3868571/
https://www.ncbi.nlm.nih.gov/pubmed/24367280
http://dx.doi.org/10.1371/journal.pgen.1004030

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