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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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Research
Accés en línia: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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