CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

doi:10.1136/jmg.34.4.297

Back to search

Article

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.

Journal of medical genetics - 1 Apr 1997

Castellani C, Bonizzato A, Mastella G

Abstract excerpt

Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF) mutation, delta F508, much more frequently than the general population. Among the 716 IRT positive newborns detected by a three tier (IRT, muta...

Topics

Adult
Alleles
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Humans
Infant, Newborn
Infertility, Male
Introns
Male
Mutation
Neonatal Screening
RNA, Messenger
Sweating
Trypsin
Vas Deferens

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.