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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.
Persico, Ilaria; Feresin, Agnese; Faleschini, Michela; Fontana, Giorgia; Sirchia, Fabio; Faletra, Flavio; La Bianca, Martina; Suergiu, Sarah; Morgutti, Marcello; Maschio, Massimo; D'Adamo, Adamo Pio; Raraigh, Karen S; Savoia, Anna; Bottega, Roberta.
Affiliation
  • Persico I; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Feresin A; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Faleschini M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Fontana G; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Faletra F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • La Bianca M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Suergiu S; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Morgutti M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Maschio M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • D'Adamo AP; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Raraigh KS; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Savoia A; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Bottega R; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
Mol Genet Genomic Med ; 10(6): e1926, 2022 06.
Article in En | MEDLINE | ID: mdl-35348309
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystic Fibrosis Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Mol Genet Genomic Med Year: 2022 Document type: Article Affiliation country: Country of publication: