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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Detalhes bibliográficos
Autor principal: Lopes, Alexandra (author)
Outros Autores: Aston, Kenneth I. (author), Thompson, Emma E (author), Carvalho, Filipa (author), Gonçalves, João (author), Huang, N. (author), Matthiesen, Rune (author), Noordam, Michiel J. (author), Quintela, Ines (author), Ramu, Avinash (author), Seabra, Catarina (author), Wilfert, Amy B. (author), Dai, Juncheng (author), Downie, Jonathan (author), Fernandes, Susana (author), Guo, Xuejiang (author), Shah, Jiahao (author), Amorim, Antonio (author), Barros, Alberto (author), Carracedo, A. (author), Hu, Z. (author), Hurles, M.E. (author), Moskovtsev, S. (author), Ober, C. (author), Paduch, D.A. (author), Schiffman, J.D. (author), Schlegel, P.N. (author), Sousa, M. (author), Carrell, D.T. (author), Conrad, D.F. (author)
Formato: article
Idioma:eng
Publicado em: 2014
Assuntos:
Human Infertility
Human Spermatogenesis
Male Infertility
DMRT1
CNV
Azoospermia
Oligozoospermia
Array
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2157
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2157

Texto Completo

http://hdl.handle.net/10400.18/2157

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