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The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti, Roser; Gürsoy, Semra; Castilla-Vallmanya, Laura; Cunill, Guillem; Rabionet, Raquel; Erçal, Derya; Grinberg, Daniel; Balcells, Susana.
Afiliação
  • Urreizti R; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
  • Gürsoy S; Department of Pediatric Genetics Dokuz Eylül University Izmir Turkey.
  • Castilla-Vallmanya L; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
  • Cunill G; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
  • Rabionet R; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
  • Erçal D; Department of Pediatric Genetics Dokuz Eylül University Izmir Turkey.
  • Grinberg D; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
  • Balcells S; Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
Clin Case Rep ; 6(8): 1452-1456, 2018 Aug.
Article em En | MEDLINE | ID: mdl-30147881
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2018 Tipo de documento: Article