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Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics.
Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Calvo-López, Laura; Olivella, Mireia; Barqué, Anna; Diaz-de-Heredia, Cristina; Moser, Katja; Kleine Budde, Ilona; Sanchez, Mayka.
Afiliação
  • Romero-Cortadellas L; Department of Biomedical Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Spain.
  • Ferrer-Cortès X; Department of Biomedical Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Spain.
  • Calvo-López L; BloodGenetics S.L. Diagnostics in Inherited Blood Diseases, Esplugues de Llobregat, Spain.
  • Olivella M; Department of Biomedical Sciences, Iron Metabolism: Regulation and Diseases Group, Universitat Internacional de Catalunya (UIC), Sant Cugat del Vallès, Spain.
  • Barqué A; Bioinformatics and Bioimaging Group, Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, Vic, Spain.
  • Diaz-de-Heredia C; Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, Vic, Spain.
  • Moser K; Program of Program of Predictive and Personalized Medicine of Cancer (PMPPC), Institut d'Investigació Germans Trias i Pujol (IGTP), Badalona, Spain.
  • Kleine Budde I; Pediatric Hematology Department, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
  • Sanchez M; Klinik für Kinder Und Jugendmedizin Hospital, Pediatrics and Neonatology Department, Aschaffenburg, Germany.
Br J Haematol ; 2024 Jul 31.
Article em En | MEDLINE | ID: mdl-39081172
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Br J Haematol Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Br J Haematol Ano de publicação: 2024 Tipo de documento: Article