An ancient founder mutation in PROKR2 impairs human reproduction

Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin recept...

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Main Authors: Avbelj Stefanija, Magdalena, Jeanpierre, Marc, Sykiotis, Gerasimos P., Young, Jacques, Quinton, Richard, Abreu, Ana Paula, Plummer, Lacey, Au, Margaret G., Balasubramanian, Ravikumar, Dwyer, Andrew A., Florez, Jose C., Cheetham, Timothy, Pearce, Simon H., Purushothaman, Radhika, Schinzel, Albert, Pugeat, Michel, Jacobson-Dickman, Elka E., Ten, Svetlana, Latronico, Ana Claudia, Gusella, James F., Dode, Catherine, Crowley, William F., Pitteloud, Nelly
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3441126/
https://ncbi.nlm.nih.gov/pubmed/22773735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds264
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