Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in the human population. We hypothesized that men with spermatogenic impairment, a disease with unknown genetic architecture and a common cause of male in...

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Detalles Bibliográficos
Autores principales: Lopes, Alexandra M., Aston, Kenneth I., Thompson, Emma, Carvalho, Filipa, Gonçalves, João, Huang, Ni, Matthiesen, Rune, Noordam, Michiel J., Quintela, Inés, Ramu, Avinash, Seabra, Catarina, Wilfert, Amy B., Dai, Juncheng, Downie, Jonathan M., Fernandes, Susana, Guo, Xuejiang, Sha, Jiahao, Amorim, António, Barros, Alberto, Carracedo, Angel, Hu, Zhibin, Hurles, Matthew E., Moskovtsev, Sergey, Ober, Carole, Paduch, Darius A., Schiffman, Joshua D., Schlegel, Peter N., Sousa, Mário, Carrell, Douglas T., Conrad, Donald F.
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/PMC3605256/
https://www.ncbi.nlm.nih.gov/pubmed/23555275
http://dx.doi.org/10.1371/journal.pgen.1003349

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