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Oxidative stress and mitochondrial dysfunction in Kindler syndrome

BACKGROUND: Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of this disease involving mutations of FERMT1 (fermitin family member 1), and effor...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Zapatero-Solana, Elisabeth, García-Giménez, Jose Luis, Guerrero-Aspizua, Sara, García, Marta, Toll, Agustí, Baselga, Eulalia, Durán-Moreno, Maria, Markovic, Jelena, García-Verdugo, Jose Manuel, Conti, Claudio J, Has, Cristina, Larcher, Fernando, Pallardó, Federico V, Del Rio, Marcela
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4302591/
https://ncbi.nlm.nih.gov/pubmed/25528446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0211-8
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