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

Clinical Genetics

Volumn 72, Issue 1, 2007, Pages 39-46

  Narzi, L ^a   Ferraguti, G ^a   Stamato, A ^a   Narzi, F ^a   Valentini, S B ^a   Lelli, A ^b   Delaroche, I ^b   Lucarelli, M ^a   Strom, R ^a   Quattrucci, Serena ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b Italian Red Cross   (Italy)

Author keywords

Atypical forms; CFTR mutations; Cystic fibrosis; Hypertrypsinaemia; Neonatal screening

Indexed keywords

IMMUNOREACTIVE TRYPSIN 1; IMMUNOREACTIVE TRYPSIN 2; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL PROTOCOL; CYSTIC FIBROSIS; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HETEROZYGOTE; HUMAN; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; SWEAT TEST; SYMPTOMATOLOGY;

EID: 34347363134     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00825.x     Document Type: Article

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