Essential Role of BRCA2 in Ovarian Development and Function

The causes of ovarian dysgenesis remain incompletely understood. Two sisters with XX ovarian dysgenesis carried compound heterozygous truncating mutations in the BRCA2 gene that led to reduced BRCA2 protein levels and an impaired response to DNA damage, which resulted in chromosomal breakage and the...

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Detalhes bibliográficos
Publicado no:N Engl J Med
Principais autores: Weinberg-Shukron, Ariella, Rachmiel, Mariana, Renbaum, Paul, Gulsuner, Suleyman, Walsh, Tom, Lobel, Orit, Dreifuss, Amatzia, Ben-Moshe, Avital, Zeligson, Sharon, Segel, Reeval, Shore, Tikva, Kalifa, Rachel, Goldberg, Michal, King, Mary-Claire, Gerlitz, Offer, Levy-Lahad, Ephrat, Zangen, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6230262/
https://ncbi.nlm.nih.gov/pubmed/30207912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1800024
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