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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...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
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Materias: | |
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 |