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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Zampieri, Stefania; Cattarossi, Silvia; Pavan, Eleonora; Barbato, Antonio; Fiumara, Agata; Peruzzo, Paolo; Scarpa, Maurizio; Ciana, Giovanni; Dardis, Andrea.
Afiliação
  • Zampieri S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Cattarossi S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Pavan E; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Barbato A; Department of Clinical Medicine and Surgery, Federico II University Hospital, 80131 Naples, Italy.
  • Fiumara A; Pediatric Unit, Regional Referral Center for Inherited Metabolic Disease, University of Catania, 95123 Catania, Italy.
  • Peruzzo P; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Ciana G; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
  • Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Int J Mol Sci ; 22(11)2021 May 24.
Article em En | MEDLINE | ID: mdl-34073924
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Beta-Glucosidase / Reação em Cadeia da Polimerase Multiplex / Exoma / Doença de Gaucher Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Beta-Glucosidase / Reação em Cadeia da Polimerase Multiplex / Exoma / Doença de Gaucher Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália