Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

Ribonuclease inhibitor 1, also known as angiogenin inhibitor 1, encoded by RNH1, is a ubiquitously expressed leucine-rich repeat protein, which is highly conserved in mammalian species. Inactivation of rnh1 in mice causes an embryonically lethal anemia, but the exact biological function of RNH1 in h...

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Detalles Bibliográficos
Autores principales: Hedberg-Oldfors, Carola, Mitra, Sanhita, Molinaro, Angela, Visuttijai, Kittichate, Fogelstrand, Linda, Oldfors, Anders, Sterky, Fredrik H., Darin, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400601/
https://www.ncbi.nlm.nih.gov/pubmed/36935417
http://dx.doi.org/10.1038/s41431-023-01327-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400601/
https://www.ncbi.nlm.nih.gov/pubmed/36935417
http://dx.doi.org/10.1038/s41431-023-01327-7

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