A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant newborns have a taut, shiny, non-expandable e...

Descripción completa

Detalles Bibliográficos
Autores principales: Tao, Jianning, Koster, Maranke I., Harrison, Wilbur, Moran, Jennifer L., Beier, David R., Roop, Dennis R., Overbeek, Paul A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511458/
https://www.ncbi.nlm.nih.gov/pubmed/23226340
http://dx.doi.org/10.1371/journal.pone.0050634

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511458/
https://www.ncbi.nlm.nih.gov/pubmed/23226340
http://dx.doi.org/10.1371/journal.pone.0050634

Ejemplares similares