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Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar, Sawssan; Kanoun, Houda; Kammoun, Khawla; Domingo-Gallego, Andrea; Ruiz, Patricia; Lorente-Grandoso, Laura; Pybus, Marc; Maalej, Bayen; Boudawara, Tahya; Kamoun, Hassen; Ben Hmida, Mohamed; Ars, Elisabet; Jarraya, Faiçal.
Afiliação
  • Ammar S; Renal pathology research laboratory LR19ES11, Department of Nephrology, Hedi Chaker University Hospital, Sfax, Tunisia. sawsanammar91@gmail.com.
  • Kanoun H; Renal pathology research laboratory LR19ES11, Department of Nephrology, Hedi Chaker University Hospital, Sfax, Tunisia.
  • Kammoun K; Human Genetic Laboratory, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Domingo-Gallego A; Renal pathology research laboratory LR19ES11, Department of Nephrology, Hedi Chaker University Hospital, Sfax, Tunisia.
  • Ruiz P; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.
  • Lorente-Grandoso L; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.
  • Pybus M; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.
  • Maalej B; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.
  • Boudawara T; Department of Pediatry, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Kamoun H; Department of Pathology, Habib Bourguiba University Hospital, Sfax, Tunisia.
  • Ben Hmida M; Human Genetic Laboratory, University Hospital Hedi Chaker, Sfax, Tunisia.
  • Ars E; Renal pathology research laboratory LR19ES11, Department of Nephrology, Hedi Chaker University Hospital, Sfax, Tunisia.
  • Jarraya F; Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III, Cartagena 340-350, 08025, Barcelona, Catalonia, Spain.
J Hum Genet ; 66(8): 795-803, 2021 Aug.
Article em En | MEDLINE | ID: mdl-33654185
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Glomerulosclerose Segmentar e Focal / Colágeno / Colágeno Tipo IV / Fator de Transcrição PAX2 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Tunísia
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Glomerulosclerose Segmentar e Focal / Colágeno / Colágeno Tipo IV / Fator de Transcrição PAX2 Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Tunísia