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Compound heterozygosity for two mutations in the TNFRSF1A gene in a severely affected patient with clinical features of the TNF receptor-associated periodic syndrome (TRAPS)
DOI 10.1055/s-2005-919862
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Autor:innenSL Haas, P Lohse, W Schmitt, MV Singer, U Böcker
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe04/2006
Jahrgang / SeitenNicht angegeben
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Abstract-Vorschau
Aims: The tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is typically characterized by periodic fever, myalgia, skin rash, conjunctivitis and abdominal cramps. Recently, mutations in the TNFRSF1A gene on chromosome 12p13 encoding the TNF receptor type 1 (TNFR1) have been linked to this autoinflammatory syndrome. In most cases, the resulting amino acid substitutions lead to a reduced sheddi…
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Zitierempfehlung
SL Haas, P Lohse, W Schmitt, MV Singer, U Böcker (2006) Compound heterozygosity for two mutations in the TNFRSF1A gene in a severely affected patient with clinical features of the TNF receptor-associated periodic syndrome (TRAPS). Zeitschrift für Gastroenterologie (04). https://doi.org/10.1055/s-2005-919862
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