B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Meckel syndrome (MKS) is an embryonic lethal, autosomal recessive disorder characterized by polycystic kidney disease, central nervous system defects, polydactyly and liver fibrosis. This disorder is thought to be associated with defects in primary cilia; therefore, it is classed as a ciliopathy. To...

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Main Authors: Hopp, Katharina, Heyer, Christina M., Hommerding, Cynthia J., Henke, Susan A., Sundsbak, Jamie L., Patel, Shail, Patel, Priyanka, Consugar, Mark B., Czarnecki, Peter G., Gliem, Troy J., Torres, Vicente E., Rossetti, Sandro, Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3109998/
https://ncbi.nlm.nih.gov/pubmed/21493627
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr151
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