Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype
Résumé
TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families.
Domaines
Médecine humaine et pathologie
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IRMB 66_p35_Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS-PFAPA-like phenotype_mgg3.229.pdf (630.11 Ko)
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