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Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation
Transmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models. The precise pathogenic mechanisms remain undetermined. Herein it is reported for the first time that...
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| Gepubliceerd in: | Sci Rep |
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| Hoofdauteurs: | , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6355840/ https://ncbi.nlm.nih.gov/pubmed/30705305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37620-5 |
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