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Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging

Embryonic aneuploidy from mis-segregation of chromosomes during meiosis causes pregnancy loss. Proper disjunction of homologous chromosomes requires the mismatch repair (MMR) genes MLH1 and MLH3, essential in mice for fertility. Variants in these genes can increase colorectal cancer risk, yet the re...

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Detalles Bibliográficos
Autores principales: Singh, Priti, Fragoza, Robert, Blengini, Cecilia S., Tran, Tina N., Pannafino, Gianno, Al-Sweel, Najla, Schimenti, Kerry J., Schindler, Karen, Alani, Eric A., Yu, Haiyuan, Schimenti, John C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8373927/
https://www.ncbi.nlm.nih.gov/pubmed/34408140
http://dx.doi.org/10.1038/s41467-021-25028-1