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Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach()()

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 im...

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Detalles Bibliográficos
Autores principales: Mariath, Luiza Monteavaro, Kiszewski, Ana Elisa, Frantz, Jeanine Aparecida, Siebert, Marina, Matte, Ursula, Schuler-Faccini, Lavínia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007490/
https://www.ncbi.nlm.nih.gov/pubmed/33640189
http://dx.doi.org/10.1016/j.abd.2020.05.015