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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Publié dans:Mamm Genome
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Springer US 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110705/
https://ncbi.nlm.nih.gov/pubmed/27671791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-016-9664-5
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