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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2002-7-22
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pubmed:abstractText |
To assess the performance of a two tier neonatal screening programme (IRT/DNA/IRT) for cystic fibrosis, based on immunoreactive trypsinogen (IRT) followed by direct cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis (based on a panel of up to 31 mutations) in hypertrypsinaemic newborn infants and to compare it with a previous screening protocol.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0969-1413
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
60-3
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:12133923-Cystic Fibrosis,
pubmed-meshheading:12133923-Cystic Fibrosis Transmembrane Conductance Regulator,
pubmed-meshheading:12133923-DNA Mutational Analysis,
pubmed-meshheading:12133923-Genetic Heterogeneity,
pubmed-meshheading:12133923-Genotype,
pubmed-meshheading:12133923-Heterozygote Detection,
pubmed-meshheading:12133923-Humans,
pubmed-meshheading:12133923-Infant, Newborn,
pubmed-meshheading:12133923-Italy,
pubmed-meshheading:12133923-Neonatal Screening,
pubmed-meshheading:12133923-Pilot Projects,
pubmed-meshheading:12133923-Prevalence,
pubmed-meshheading:12133923-Program Evaluation,
pubmed-meshheading:12133923-Sensitivity and Specificity,
pubmed-meshheading:12133923-Sequence Deletion,
pubmed-meshheading:12133923-Sweat,
pubmed-meshheading:12133923-Trypsinogen
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pubmed:year |
2002
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pubmed:articleTitle |
Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population.
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pubmed:affiliation |
Neonatal Screening Centre, AO Istituti Clinici di Perfezionamento, Milano, Italy.
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pubmed:publicationType |
Journal Article,
Evaluation Studies
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