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J Cyst Fibros. 2012 May;11(3):257-60. doi: 10.1016/j.jcf.2011.11.010. Epub 2011 Dec 30.

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.

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1
Ambry Genetics, Aliso Viejo, CA 92656, USA.

Abstract

We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T/5T identified by California cystic fibrosis newborn screening. SC and IRT distributions increased with increasing (TG) repeats.

PMID:
22209734
DOI:
10.1016/j.jcf.2011.11.010
[Indexed for MEDLINE]
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