A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

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...

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Bibliographic Details
Main Authors: Jianning Tao, Maranke I Koster, Wilbur Harrison, Jennifer L Moran, David R Beier, Dennis R Roop, Paul A Overbeek
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3511458?pdf=render

Internet

http://europepmc.org/articles/PMC3511458?pdf=render

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