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An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath, Luiza M; Santin, Juliana T; Frantz, Jeanine A; Doriqui, Maria J R; Kiszewski, Ana E; Schuler-Faccini, Lavínia.
Affiliation
  • 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.
  • Doriqui MJR; Board of Directors, DEBRA Brasil (Epidermolysis Bullosa Research Association of Brazil), Blumenau, Brazil.
  • Kiszewski AE; Section of Medical Genetics, Hospital Infantil Dr. Juvêncio Mattos, São Luís, Brazil.
  • Schuler-Faccini L; Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Clin Genet ; 96(3): 189-198, 2019 09.
Article in En | MEDLINE | ID: mdl-31001817
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Epidermolysis Bullosa / Genetic Predisposition to Disease / Genetic Association Studies Type of study: Prognostic_studies Limits: Humans Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2019 Document type: Article Affiliation country: Brazil Country of publication: Denmark
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Variation / Epidermolysis Bullosa / Genetic Predisposition to Disease / Genetic Association Studies Type of study: Prognostic_studies Limits: Humans Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2019 Document type: Article Affiliation country: Brazil Country of publication: Denmark