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Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable an...

Mariath,Luiza Monteavaro; Kiszewski,Ana Elisa; Frantz,Jeanine Aparecida; Siebert,Marina; Matte,Ursula; Schuler-Faccini,Lavínia

Abstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and c...

Date: 2021   |   Origin: Oasisbr
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