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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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906318/
https://ncbi.nlm.nih.gov/pubmed/31534215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0489-z
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