Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up

The neonatal screening protocol for cystic fibrosis (CF) is based on a first determination of blood immunoreactive trypsin (IRT1), followed by a first level genetic test that includes the 31 worldwide most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (DNA31...

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Veröffentlicht in:	Clinical genetics 2007-07, Vol.72 (1), p.39-46
Hauptverfasser:	Narzi, L, Ferraguti, G, Stamato, A, Narzi, F, Valentini, SB, Lelli, A, Delaroche, I, Lucarelli, M, Strom, R, Quattrucci, S
Format:	Artikel
Sprache:	eng
Schlagworte:	atypical forms Biological and medical sciences CFTR mutations Child, Preschool cystic fibrosis Cystic Fibrosis - diagnosis Cystic Fibrosis - enzymology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Errors of metabolism Follow-Up Studies Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Testing Genetics of eukaryotes. Biological and molecular evolution Genotype Heterozygote Humans hypertrypsinaemia Infant Infant, Newborn Medical genetics Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Molecular and cellular biology Neonatal Screening Trypsin - blood Trypsinogen - blood
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