False-positive results of genetic testing in cystic fibrosis

Journal of Pediatrics

Volumn 130, Issue 4, 1997, Pages 658-660

  Warren, W S ^a   Hamosh, A ^a   Egan, M ^a   Rosenstein, B J ^a  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRYPSIN;

ARTICLE; CASE REPORT; CHILD; CYSTIC FIBROSIS; DNA POLYMORPHISM; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IMMUNOREACTIVITY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SWEAT TEST;

EID: 0030731736     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70255-5     Document Type: Article

References (11)

1. KB Hammond SH Abman RJ Sokol FJ. Accurso Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations N Engl J Med 325 1991 769 774
2. E Ranieri BD Lewis RL Gerace Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience Arch Dis Child 308 1994 469 472
3. GR Cutting SM Currisitin E Nash Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians Am J Hum Genet 50 1992 1185 1194
4. MJ Welsh L-C Tsui TF Boat AL. Beaudet Cystic fibrosis CF Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of interited disease. 1995 McGraw-Hill New York 3799 3876
5. The Cystic Fibrosis Genetic Analysis Consortium Population variation of common cystic fibrosis mutations Hum Mutat 4 1994 167
6. K Kobayashi MR Knowles RC Boucher Benign missense variations in the cystic fibrosis gene Am J Hum Genet 57 1990 611 615
7. M Macek Jr L Ladanyi J Burger A. Reis Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation Am J Hum Genet 51 1992 1173 1174
8. D Meschede A Eigel J Horst G Nieschlas Compound heterozygosity for the ΔF508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral absence of the vas deferens Am J Hum Genet 53 1993 292 293
9. M Desgeorges P Kjellberg J Demaille M Claustres A healthy male with compound and double heterozygosities for ΔF508, F508C, and M470V in exon 10 of the cystic fibrosis gene Am J Genet 54 1994 384 385
10. R Dufourcq S Vuillamuier O Pascaud Compound heterozygosity for ΔF508 and F508C: a cautionary note on the molecular diagnosis of cystic fibrosis Prenat Diagn 14 1994 1175 1177
11. N Kalin T Dork B. Tummler A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator Hum Mutat 1 1992 204 210