Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis

Clinical Genetics

Volumn 59, Issue 1, 2001, Pages 42-47

  Scoteta, V ^a   De Braekeleer, M ^d   Audrezet M P ^a   Lode L ^a   Verlingue, C ^a   Quere I ^a   Mercier, B ^a   Dugueperoux I ^c   Codet, J P ^a   Moineau, M P ^b   Parent, P ^a   Ferec C ^a  

^a CHU MORVAN   (France)

^b Service De Cytogénétique   (France)

^c INSTITUT NATIONAL D'ÉTUDES DÉMOGRAPHIQUES   (France)

^d Service de Pédiatrie et de Génétique Médicale   (France)

Author keywords

Brittany; CFTR mutations; Cystic fibrosis; Heterozygosity; Hypertrypsinaemia; IVS8 5T variant; Neonatal screening

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN; TRYPSINOGEN;

ANALYSIS; ARTICLE; ASSAY; CLINICAL PROTOCOL; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; FRANCE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERTRYPSINEMIA; IMMUNOREACTIVITY; INBORN ERROR OF METABOLISM; MUTATION RATE; NEWBORN; NEWBORN SCREENING; PREVALENCE; PRIORITY JOURNAL;

ALLELES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; FRANCE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INTRONS; MUTATION; NEONATAL SCREENING; PREVALENCE; SWEATING; TRYPSIN;

EID: 0035168196     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590107.x     Document Type: Article

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