Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice

Mutations in SLURP1 cause mal de Meleda, a rare palmoplantar keratoderma (PPK). SLURP1 is a secreted protein that is expressed highly in keratinocytes but has also been identified elsewhere (e.g., spinal cord neurons). Here, we examined Slurp1-deficient mice (Slurp1(−/−)) created by replacing exon 2...

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Detalles Bibliográficos
Autores principales: Adeyo, Oludotun, Allan, Bernard B., Barnes, Richard H., Goulbourne, Chris N., Tatar, Angelica, Tu, Yiping, Young, Lorraine C., Weinstein, Michael, Tontonoz, Peter, Fong, Loren G., Beigneux, Anne P., Young, Stephen G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214150/
https://www.ncbi.nlm.nih.gov/pubmed/24499735
http://dx.doi.org/10.1038/jid.2014.19

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