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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mamm Genome
Principais autores: 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: Artigo
Idioma:Inglês
Publicado em: Springer US 2016
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados