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Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Bulfamante, Gaetano Pietro; Carpenito, Laura; Bragantini, Emma; Graziani, Silvia; Bellizzi, Maria; Bagowski, Christoph Peter; Shoukier, Moneef; Rivieri, Francesca; Soffiati, Massimo; Barbareschi, Mattia.
Afiliación
  • Bulfamante GP; Human Pathology and Medical Genetic Unit, Department of Health Sciences, San Paolo Hospital, University of Milan, 20142 Milan, Italy.
  • Carpenito L; School of Pathology, University of Milan, 20122 Milan, Italy.
  • Bragantini E; Department of Pathology, Santa Chiara Hospital, 38122 Trento, Italy.
  • Graziani S; NICU, Santa Chiara Hospital, 38122 Trento, Italy.
  • Bellizzi M; Department of Pediatrics, Santa Chiara Hospital, 38122 Trento, Italy.
  • Bagowski CP; Prenatal Medicine Münich, Department of Molecular Genetics, University Hospital, Aiblingerstr. 8, 80639 Münich, Germany.
  • Shoukier M; Prenatal Medicine Münich, Department of Molecular Genetics, University Hospital, Aiblingerstr. 8, 80639 Münich, Germany.
  • Rivieri F; Medical Genetic Service, Santa Chiara Hospital, 38122 Trento, Italy.
  • Soffiati M; Department of Pediatrics, Santa Chiara Hospital, 38122 Trento, Italy.
  • Barbareschi M; Department of Pathology, Santa Chiara Hospital, 38122 Trento, Italy.
Diagnostics (Basel) ; 11(6)2021 Jun 04.
Article en En | MEDLINE | ID: mdl-34199854
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Diagnostics (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: Diagnostics (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Italia