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

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

Proper meiotic chromosome segregation requires mismatch repair genes MLH1 and MLH3, of which variants occur in the human population. Here, the authors use computational predictions and yeast assays to select human MLH1/3 variants for modelling in mice, observing reproductive defects from abnormal le...

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Autores principales: Priti Singh, Robert Fragoza, Cecilia S. Blengini, Tina N. Tran, Gianno Pannafino, Najla Al-Sweel, Kerry J. Schimenti, Karen Schindler, Eric A. Alani, Haiyuan Yu, John C. Schimenti
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Science
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Acceso en línea:https://doaj.org/article/ea5df12e8dcb4fb3a1ae13ed6a79b628
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