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One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato, Marcella; Starnone, Flavio; Giordano, Sonia; D'Antonio, Marcella; Scognamiglio, Domenico; Esposito, Maria Valeria; Correra, Antonio; Di Maggio, Federica; D'Argenio, Valeria; Scaglione, Giovanni Luca; Castaldo, Giuseppe; Salvatore, Francesco.
Affiliation
  • Nunziato M; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • Starnone F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • Giordano S; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • D'Antonio M; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • Scognamiglio D; A.O.R.N. Santobono-Pausilipon - Centro Screening Neonatale, Via Teresa Ravaschieri già via della Croce Rossa, 8, 80122 Naples, Italy.
  • Esposito MV; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • Correra A; A.O.R.N. Santobono-Pausilipon - Centro Screening Neonatale, Via Teresa Ravaschieri già via della Croce Rossa, 8, 80122 Naples, Italy.
  • Di Maggio F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • D'Argenio V; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy; Department of Human Sciences and Quality of Life Promotion, San Raffaele Open University, Via di Val Cannuta 247, 00166 Rome, Italy.
  • Scaglione GL; Istituto Dermopatico dell'Immacolata IDI-IRCCS, Via dei Monti di Creta, 104, 00167 Rome, Italy.
  • Castaldo G; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy.
  • Salvatore F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Pansini 5, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate Franco Salvatore, Via Gaetano Salvatore, 486, 80145 Naples, Italy. Electronic address: salvator@unina.it.
Clin Chim Acta ; 552: 117625, 2024 01 01.
Article in En | MEDLINE | ID: mdl-37923102
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Limits: Humans / Newborn Language: En Journal: Clin Chim Acta Year: 2024 Document type: Article Affiliation country: Italia Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Transmembrane Conductance Regulator / Cystic Fibrosis Limits: Humans / Newborn Language: En Journal: Clin Chim Acta Year: 2024 Document type: Article Affiliation country: Italia Country of publication: Países Bajos