 
Date:
Mon, 20 Oct 2008 15:25:06 -0500
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Happy Monday-
I have a newborn patient with bowel obstruction and elevated IRT whose DNA studies show she is compound heterozygous for deltaF508/L1254X. Parents of course wanting clinical correlation. As far as I can find, the L1254X mutation has only been reported in one English patient, in a personal communication between Wallace and Tassabehji in 1993. If anyone else has seen this mutation and can give any type of clinical correlation I would welcome it.
Thanks,
Robin
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Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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"This year, or this month, or, more likely, this very day, we have failed to practise ourselves the kind of behaviour we expect from other people." -- C.S. Lewis --
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