MNS1 variant associated with situs inversus and male infertility

Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investig...

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Detalles Bibliográficos
Autores principales: Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906318/
https://www.ncbi.nlm.nih.gov/pubmed/31534215
http://dx.doi.org/10.1038/s41431-019-0489-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906318/
https://www.ncbi.nlm.nih.gov/pubmed/31534215
http://dx.doi.org/10.1038/s41431-019-0489-z

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