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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Shim, Joon W., Territo, Paul R., Simpson, Stefanie, Watson, John C., Jiang, Lei, Riley, Amanda A., McCarthy, Brian, Persohn, Scott, Fulkerson, Daniel, Blazer-Yost, Bonnie L.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2019
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia