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The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein

Mutations in the human homolog of the Drosophila gene Rogdi cause Kohlschütter-Tönz syndrome. This disorder is characterised by amelogenesis imperfecta, as well as severe neurological symptoms including epilepsy and psychomotor delay. However, little is known about the protein encoded by Rogdi, and...

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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: Riemann, Donatus, Wallrafen, Rebecca, Dresbach, Thomas
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5693994/
https://ncbi.nlm.nih.gov/pubmed/29150638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-16004-1
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