Hypomorphic mutation of the mouse Huntington’s disease gene orthologue

Rare individuals with inactivating mutations in the Huntington’s disease gene (HTT) exhibit variable abnormalities that imply essential HTT roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations in the murine HTT orthologue Htt, (Hdh(neoQ20)...

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Detalles Bibliográficos
Autores principales: Murthy, Vidya, Tebaldi, Toma, Yoshida, Toshimi, Erdin, Serkan, Calzonetti, Teresa, Vijayvargia, Ravi, Tripathi, Takshashila, Kerschbamer, Emanuela, Seong, Ihn Sik, Quattrone, Alessandro, Talkowski, Michael E., Gusella, James F., Georgopoulos, Katia, MacDonald, Marcy E., Biagioli, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445486/
https://www.ncbi.nlm.nih.gov/pubmed/30897080
http://dx.doi.org/10.1371/journal.pgen.1007765

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