Oxidative stress and mitochondrial dysfunction in Kindler syndrome
نویسندگان
چکیده
منابع مشابه
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 efforts to characterize genotype-phenotype correlations, the clinical variability of this genodermatosi...
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1 Laboratory of Bioenergetics, Postgraduate Program in Health Sciences, Health Sciences Unit, University of Southern Santa Catarina, 88806-000 Criciúma, SC, Brazil 2 Department of Cellular Signaling, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland 3Department of Surgery, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, M...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2014
ISSN: 1750-1172
DOI: 10.1186/s13023-014-0211-8