Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of t...

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Bibliographic Details
Main Authors: Lei Zhang, Michael Ferreyros, Weiguo Feng, Melanie Hupe, Debra A Crumrine, Jiang Chen, Peter M Elias, Walter M Holleran, Lee Niswander, Daniel Hohl, Trevor Williams, Enrique C Torchia, Dennis R Roop
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4994956?pdf=render

Internet

http://europepmc.org/articles/PMC4994956?pdf=render

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