PMC5088555_01
Abdominal ultrasound showing remarkable gastric and duodenal edema.
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An abdominal ultrasound showed remarkable gastric and duodenal edema (Fig. 1).
Direct DNA sequencing of the polymerase chain reaction (PCR) product of exon 4 from the patient identified a heterozygous, single-base substituteon (T to C) at nucleotide position 4429 (arrow). This mutation predicts substitution of Leu (CTG) at codon 188 by Pro (CCG).
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PMC5088555_01_1349-7235-55-2885-g002.jpg
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A direct DNA sequencing analysis of the PCR products of the C1-INH gene revealed that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4 (Fig. 2), which led to an amino acid substitution of Leu at codon 188 by Pro.