An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
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| Title: | An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants. |
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| Authors: | Mariath LM; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Santin JT; Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Frantz JA; Faculty of Medicine, Universidade Regional de Blumenau, Blumenau, Brazil.; Board of Directors, DEBRA Brasil (Epidermolysis Bullosa Research Association of Brazil), Blumenau, Brazil., Doriqui MJR; Section of Medical Genetics, Hospital Infantil Dr. Juvêncio Mattos, São Luís, Brazil., Kiszewski AE; Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.; Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil., Schuler-Faccini L; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Department of Genetics, Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, Brazil. |
| Source: | Clinical genetics [Clin Genet] 2019 Sep; Vol. 96 (3), pp. 189-198. Date of Electronic Publication: 2019 May 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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