Viable Ednra(Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation

Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129...

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Detalles Bibliográficos
Autores principales: Sabrautzki, Sibylle, Sandholzer, Michael A., Lorenz-Depiereux, Bettina, Brommage, Robert, Przemeck, Gerhard, Vargas Panesso, Ingrid L., Vernaleken, Alexandra, Garrett, Lillian, Baron, Katharina, Yildirim, Ali O., Rozman, Jan, Rathkolb, Birgit, Gau, Christine, Hans, Wolfgang, Hoelter, Sabine M., Marschall, Susan, Stoeger, Claudia, Becker, Lore, Fuchs, Helmut, Gailus-Durner, Valerie, Klingenspor, Martin, Klopstock, Thomas, Lengger, Christoph, Stefanie, Leuchtenberger, Wolf, Eckhard, Strom, Tim M., Wurst, Wolfgang, de Angelis, Martin Hrabě
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110705/
https://www.ncbi.nlm.nih.gov/pubmed/27671791
http://dx.doi.org/10.1007/s00335-016-9664-5

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