In:
Acta Paediatrica, Wiley, Vol. 95, No. 7 ( 2006-07), p. 871-873
Abstract:
In order to increase knowledge of the pathogenic effect of the 5T‐12TG allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we evaluated its presence in 24 hypertrypsinaemic newborns with borderline sweat tests. Among 20 CFTR‐identified alterations, the 5T‐12TG haplotype was the second most frequent mutation (14.6%) over F508del. Conclusion: Our study suggests the need for searching for this allele in hypertrypsinaemic infants with inconclusive sweat tests.
Type of Medium:
Online Resource
ISSN:
0803-5253
,
1651-2227
DOI:
10.1111/apa.2006.95.issue-7
DOI:
10.1111/j.1651-2227.2006.tb02358.x
Language:
English
Publisher:
Wiley
Publication Date:
2006
detail.hit.zdb_id:
1492629-5
detail.hit.zdb_id:
1501466-6