The mutational spectrum of WT1 in male infertility

PURPOSE: We evaluated the impact of WT1 mutations in isolated severe spermatogenic impairment in a population of European ancestry. WT1 was first identified as the gene responsible for Wilms tumor. It was later associated with a plethora of clinical phenotypes often accompanied by urogenital defects...

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Detalhes bibliográficos
Autor principal: Seabra, Catarina M. (author)
Outros Autores: Quental, Sofia (author), Lima, Ana C (author), Carvalho, Filipa (author), Gonçalves, João (author), Fernandes, Susana (author), Pereira, Iris (author), Silva, Júlia (author), Marques, Patrícia I. (author), Sousa, Mário (author), Barros, Alberto (author), Seixas, Susana (author), Amorim, António (author), Lopes, Alexandra M. (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
WT1
Infertility
Doenças Genéticas
Male Infertility
Spermatogenesis
Wilms Tumor
European Continental Ancestry Group
Genes
Mutation
Testis
Texto completo:http://hdl.handle.net/10400.18/2710
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2710

Texto Completo

http://hdl.handle.net/10400.18/2710

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