The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome
Abstract Kohlschutter-Tönz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset characterized by global developmental delay, spasticity, epilepsy, and amelogenesis imperfecta. Rogdi, an essential protein, is highly conserved across metazoans, and mutations in Rogdi are linked to...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2017
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| Accès en ligne: | https://doaj.org/article/c8a95ac736af4d388d56fe11595dcb96 |
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