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Outline
  • Abstract
  • Keywords
  • Introduction
  • Methods
  • Results
    • Abstract
    • Keywords
    • Introduction
    • Methods
    • Ethical aspects
    • Eb gene panel
    • Evaluation of diagnostic methods
    • Results
    • Discussion
    • Gene panel vs. ifm and tem: effectiveness, immediate benefits, and potential future
    • Cost-effectiveness of the gene panel
    • Brazilian panorama: clinical examination does not solve all cases of eb
    • Gene panel as the first option for the diagnosis of eb
    • Conclusions
    • Financial support
    • Authors’ contributions
    • Conflicts of interest
    • Acknowledgements
    • Bibliography
Original Article
DOI: 10.1016/j.abd.2020.05.015
Open Access
Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach
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Luiza Monteavaro Mariatha, Ana Elisa Kiszewskib,c, Jeanine Aparecida Frantzd,e, Marina Siebertf, Ursula Mattea,f, Lavínia Schuler-Faccinia,g,
Corresponding author
lavinia.faccini@ufrgs.br

Corresponding author at: Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
a Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
b Dermatology Section, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil
c Dermatological Pediatrics Section, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brazil
d School of Medicine, Universidade Regional de Blumenau, Blumenau, SC, Brazil
e DEBRA Brasil, Blumenau, SC, Brazil
f Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil
g Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, RS, Brazil

Article

This article is available in English

Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach
Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler-Faccini
10.1016/j.abd.2020.05.015

Este artigo também está disponível em português

Painel de genes para o diagnóstico da epidermólise bolhosa: proposta de abordagem viável e eficiente
Luiza Monteavaro Mariath, Ana Elisa Kiszewski, Jeanine Aparecida Frantz, Marina Siebert, Ursula Matte, Lavínia Schuler‐Faccini
10.1016/j.abdp.2020.05.031

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