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Volume 130, Issue 1, Pages (January 2006)

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1 Volume 130, Issue 1, Pages 172-178 (January 2006)
Severe TNF Receptor–Associated Periodic Syndrome Due to 2 TNFRSF1A Mutations Including a New F60V Substitution  Stephan L. Haas, Peter Lohse, Wilhelm H. Schmitt, Ralf Hildenbrand, Mevlüt Karaorman, Manfred V. Singer, Ulrich Böcker  Gastroenterology  Volume 130, Issue 1, Pages (January 2006) DOI: /j.gastro Copyright © 2006 American Gastroenterological Association Terms and Conditions

2 Figure 1 Tissue section of the left colon demonstrating an acute peritonitis but a normal large bowel mucosa (H&E; original magnification: upper panel 40×, lower panel 100×). Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2006 American Gastroenterological Association Terms and Conditions

3 Figure 2 DNA sequence electropherogram of the patient’s TNFRSF1A exon 4 amplification product, illustrating the heterozygous G→A substitution (indicated by an arrow), which results in the replacement of arginine (CGG), amino acid 92, by glutamine (CAG). Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2006 American Gastroenterological Association Terms and Conditions

4 Figure 3 Sequence analysis of TNFRSF1A exon 3 in the affected patient. The electropherogram shows the heterozygous T→G replacement (indicated by an arrow), which leads to the substitution of phenylalanine (TTC) by valine (GTC) at amino acid position 60. Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2006 American Gastroenterological Association Terms and Conditions

5 Figure 4 Alignment of amino acid sequences encoded by exon 3 of the TNFRSF1A gene of 5 different species, demonstrating absolute sequence conservation of phenylalanine at position 60 (1, human; 2, mouse [Mus musculus]; 3, rat [Rattus norvegicus]; 4, cat [Felis catus]; 5, pig [Sus scrofa]). Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2006 American Gastroenterological Association Terms and Conditions

6 Figure 5 Pedigree of the patient and her family. Open symbols represent healthy individuals, while the solid symbol represents the affected subject. Question marks indicate that these individuals were not available for genotyping (wt, wild-type). Gastroenterology  , DOI: ( /j.gastro ) Copyright © 2006 American Gastroenterological Association Terms and Conditions

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