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. Author manuscript; available in PMC: 2009 Aug 1.
Published in final edited form as: Gastroenterology. 2008 May 15;135(2):429–437. doi: 10.1053/j.gastro.2008.05.036

Table 1. Phenotype and Mutations found in CTE Patients.

Nucleotide and amino acid coordinates are given assuming the A of the ATG translation initiation codon is nucleotide 1. The normal control frequency refers to the number of times an indicated nucleotide change was found in the indicated number of control DNA samples analyzed. Parenteral nutrition requirement reflects percentage of total caloric intake provided parenterally.

Patient Ethnicity Age at Diagnosis Current Age Known Consanguinity Variant in EpCAM Normal Control Frequency
P1 Mexican American 14 months 3.5 yrs None* c.491+1G>A 0/200
P2 Mexican American 11 months 2.5 yrs None* c.491+1G>A 0/200
P3 Native Canadian 1 year 12 yrs Great Grandparents were siblings c.427−1G>A 0/171
P4 Russian 2 months 5 yrs None c. 200G>A 0/171
P5 English/Italian 4 months 20 yrs None None N/A